View unique variants   Search unique variants View all contents   Full database search Variant listing based on patient origin Database statistics   Switch gene
LOVD - Variant listings for RB1

Unhide all columns | Hide Specific Columns | Hide all columns
About this overview [Show]

978 public entries
entries per page

Path. Hide Path. column Descending
Ascending
g-position Hide g-position column Descending
Ascending
cDNA change   Descending
Ascending
Type Hide Type column Descending
Ascending
Exon Hide Exon column Descending
Ascending
RNA change Hide RNA change column Descending
Ascending
Protein Hide Protein column Descending
Ascending
RBWiki Hide RBWiki column Descending
Ascending
expected consequence type Hide expected consequence type column Descending
Ascending
DB-ID Hide DB-ID column Descending
Ascending
originated_in Hide originated_in column Descending
Ascending
Patient ID Hide Patient ID column Descending
Ascending
Phenotype Hide Phenotype column Descending
Ascending
Mut. origin Hide Mut. origin column Descending
Ascending
Tissue Hide Tissue column Descending
Ascending
Template Hide Template column Descending
Ascending
tumor-genotype Hide tumor-genotype column Descending
Ascending
family history Hide family history column Descending
Ascending
Reference Hide Reference column Descending
Ascending
# Reported Hide # Reported column Descending
Ascending
Published Hide Published column Descending
Ascending
Remarks Hide Remarks column Descending
Ascending
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - G434 rb germline blood DNA - familial Lohmann et al., 1996 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - G486 bilateral rb germline inherited blood DNA - familial Lohmann et al., 1996 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - G823 rb germline blood DNA - familial Lohmann et al., 1996 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - RB-W24 - - blood DNA not reported - Yandell et al., 1989 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - E572 bilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - E952T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - 2 unilateral rb germline blood DNA not reported isolated Zajaczek et al., 1998 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam224 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam332 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam411 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam557 bilateral rb germline nd DNA - - Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam599 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Yu54 unilateral rb germline blood DNA - - Choy et al. (2002) Hum Mutat 20(5): 408. 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - JA333 bilateral rb germline blood DNA - isolated Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Rb79 rb germline blood DNA - - Tsai et al. (2004) Arch Ophthalmol 122:239 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - E2201 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - E3404 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - not provided bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - E1394 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - not provided bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - not provided bilateral rb - nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - E85 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - E3241 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - E4725 bilateral rb germline nd DNA unknown isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - E1399 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - E3400 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - E2186 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - not provided - somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - not provided bilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - not provided bilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam341 bilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam840 unilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam208 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam684 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam776 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam812 bilateral rb germline nd DNA - - not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam172 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam533 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam746 unilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam963 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam24 bilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam926 bilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - case 2 bilateral rb germline blood DNA - isolated Zajaczek et al. (1999) Eur J Cancer 35(13):1824 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - 163 bilateral rb germline blood DNA - familial Dalamon et al. (2004)JBiochem Mol Biol37: 246 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - 0913 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - RB1 bilateral rb germline retinoblastoma DNA heterozygous isolated de Andrade et al. (2006) Cancer Genet Cytogenet 167: 43 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - 35 bilateral rb germline blood DNA - familial Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - F4; pt# 6 bilateral retinoma germline blood DNA - familial Abouzeid et al. (2009), Mol Vis.;15:771-7 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - F4; pt# 7 unilateral rb/retinoma germline blood DNA - familial Abouzeid et al. (2009), Mol Vis.;15:771-7 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - F4; pt# 8 bilateral retinoma germline blood DNA - familial Abouzeid et al. (2009), Mol Vis.;15:771-7 1 published -
?/? g.65386C>T c.1072C>T
    + c.2663+2T>A		 substitution 11_ex - p.Arg358X - nonsense RB1_00008 somatic E2119 bilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 unpublished -
?/? g.65386C>T c.1072C>T
    + c.2058_2066del		 substitution 11_ex - p.Arg358X - nonsense RB1_00008 somatic E3215 bilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - new germline mutation
?/? g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 germline RB39 bilateral rb - blood DNA - - Abidi et al. (2011) Mol Vis.;17:3541-7 1 published -
?/? g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 somatic SJRB001X retinoblastoma somatic nd DNA - - COSMIC - COSM879, Zhang et al., 2012 1 published -
+/? g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 unknown Tab_1_6 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/? g.65515C>T c.1127+74C>T substitution 11_in - variant - variant RB1_01035 - not provided no cancer - blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.65515C>T c.1127+74C>T substitution 11_in - variant - variant RB1_01035 - not provided - unknown nd DNA unknown unknown dbSNP 1 - -
?/? g.70254C>T c.1140C>T Substitution 12_ex - p.Asn380Asn Asn380Asn unknown RB1_01445 unknown 5 unilateral rb - blood DNA - - - 1 unpublished -
?/+ g.70261C>T c.1147C>T substitution 12_ex - p.Gln383X - nonsense RB1_00382 - Fam98 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.70261C>T c.1147C>T substitution 12_ex - p.Gln383X - nonsense RB1_00382 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.70261C>T c.1147C>T substitution 12_ex - p.Gln383X - nonsense RB1_00382 - CO350 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.70261C>T c.1147C>T substitution 12_ex - p.Gln383X - nonsense RB1_00382 - SR15T bilateral rb somatic retinoblastoma DNA - isolated Kontic et al. (2006) J Hum Genet 51: 909 1 published -
?/? g.70261C>T c.1147C>T substitution 12_ex - p.Gln383X - nonsense RB1_00382 somatic 647-V other cancer somatic nd DNA - - COSMIC - COSM13409 1 published -
+/? g.70261C>T c.1149C>T Substitution 12 - - - nonsense RB1_01539 germline 534 bilateral rb germline leukocytes DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
?/+ g.70264C>T c.1150C>T substitution 12_ex - p.Gln384X - nonsense RB1_00081 - RB313 bilateral rb germline retinoblastoma DNA hemi/homozygous isolated Shimizu et al., 1994 1 published -
?/+ g.70264C>T c.1150C>T substitution 12_ex - p.Gln384X - nonsense RB1_00081 - not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.70264C>T c.1150C>T substitution 12_ex - p.Gln384X - nonsense RB1_00081 - Fam564 unilateral rb somatic retinoblastoma DNA - possibly familial not reported, BL Gallie - Toronto 1 unpublished -
?/? g.70286C>T c.1172C>T Substitution 12_ex - p.Ser391Leu [Ser391Leu] unknown RB1_01452 - nd other cancer - nd DNA - - - 1 - Patient with tuberous sclerosis with retinal tumors
?/+ g.70297C>T c.1183C>T substitution 12_ex - p.Gln395X - nonsense RB1_00086 - GOS559 unilateral rb - retinoblastoma DNA - - Hogg et al., 1993 1 published -
?/? g.70297C>T c.1183C>T substitution 12_ex - p.Gln395X - nonsense RB1_00086 unknown Tab_1_7 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/? g.70320C>T c.1206C>T Substitution 12_ex - samesense - splice RB1_01427 - irb11 unilateral rb germline blood DNA - - Ahani et al.(2011) Cancer Genet.; 204(6):316-22, Iran:Tehran 1 published Results in skipping of exon 12
?/? g.70329C>T c.1215C>T substitution 12_ex - variant - variant RB1_00432 - E2796 unilateral rb germline blood DNA hemi/homozygous familial Lohmann - Essen 1 unpublished -
?/? g.73835C>T c.1298C>T substitution 13_ex - p.Ala433Val - - RB1_01193 - 176 bilateral rb germline blood DNA - isolated Dalamon et al. (2004) J Biochem Mol Biol 37: 246 1 published -
?/+ g.73843C>T c.1306C>T substitution 13_ex - p.Gln436X - nonsense RB1_00309 - E2122 bilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.73843C>T c.1306C>T substitution 13_ex - p.Gln436X - nonsense RB1_00309 - S; pt# 9 unilateral rb/retinoma germline blood DNA - isolated - 1 published -
?/+ g.73867C>T c.1330C>T substitution 13_ex - p.Gln444X - nonsense RB1_00345 - Fam166 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.73867C>T c.1330C>T substitution 13_ex - p.Gln444X - nonsense RB1_00345 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.73867C>T c.1330C>T substitution 13_ex - p.Gln444X - nonsense RB1_00345 - not provided unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.73867C>T c.1330C>T substitution 13_ex - p.Gln444X - nonsense RB1_00345 - not provided bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.73867C>T c.1330C>T substitution 13_ex - p.Gln444X - nonsense RB1_00345 - Fam683 unilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E467T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E557T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - G155 bilateral rb germline inherited blood DNA - familial Lohmann et al., 1996 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - G397 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - G417 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - G1092 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - G468 rb germline blood DNA - familial Lohmann et al., 1996 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - RB-74 bilateral rb germline blood DNA not reported - Yandell et al., 1989 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E8T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E690T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E857T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - HC27 bilateral rb germline retinoblastoma DNA - isolated Braggio et al. (2004) J Clin Pathol 57(6): 585-90. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - RB26 bilateral rb germline retinoblastoma DNA homozygous familial Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - RB34 bilateral rb germline retinoblastoma DNA homozygous familial Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam34 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
301 - 400
[<-] 1 2 3 4 5 6 7 8 9 ... [->] [>>]

Legend: [ RB1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. g-position: Variation at DNA level according to GenBank accession number L11910 (NCBI Genbank) cDNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Type: Type of variant at DNA level. Exon: Exon numbering. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. RBWiki: RBWiki expected consequence type: expected consequence type at protein level, e.g. frameshift, missense RB1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. originated_in: data on the cell of origin, either germline or somatic (mosaic mutations are of somatic origin) Patient ID: Internal reference to the patient. Phenotype: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Mut. origin: Origin of mutation Tissue: Tissue type the variant was detected in. Template: Variant detected in DNA, RNA and/or Protein. tumor-genotype: Genotype of the tumor cells family history: Occurrence of the tumor in the family Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported Published: Patient data is published in a paper

Please help to improve the quality of the data and report any error that you may find!

  Powered by LOVD v.2.0 Build 34
Enabled modules: mutalyzer, recaptcha, showmaxdbid
©2004-2012 Leiden University Medical Center