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LOVD - Variant listings for RB1

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?/? g.64497G>A c.1049+58G>A substitution 10_in - variant - variant RB1_01031 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.65273G>A c.1050G>A substitution 10_in - - - - RB1_00073 - HCC11C other tumor germline Hepatocellular Carcinoma DNA not reported - Zhang et al., 1994 1 published -
+/? - c.1050-1G>A Substitution 11 r.1216_1228del p.Ser350Argfs*13 - frameshift RB1_02103 germline FC15316 unilateral rb germline peripheral blood RNA - isolated Australia:Adelaide 1 unpublished -
?/? g.65416G>A c.1102G>A Substitution 11_ex - p.Val368Ile - unknown RB1_01569 unknown rs1049721 - - nd DNA - - dbSNP 1 published -
?/? g.65614G>A c.1127+173G>A substitution 11_in - variant - variant RB1_01037 - not provided no cancer - blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.70241G>A c.1128-1G>A substitution 11_in altered splicing - - splice RB1_01366 - RB-59 bilateral rb germline blood DNA - isolated - 1 published -
?/? g.70288G>A c.1174G>A Substitution 12_ex - p.Ala392Thr - unknown RB1_01809 unknown 1KG_13_48947587 other cancer unknown nd DNA - - http://www.1000genomes.org/ 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - RB571 unilateral rb somatic retinoblastoma DNA - - Dunn et al., 1989 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - RB600 unilateral rb - retinoblastoma DNA - isolated Dunn et al., 1989 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E486T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E489T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E565 bilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E553T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - RB23 bilateral rb germline blood DNA - familial Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - RB29 unilateral rb germline retinoblastoma DNA homozygous - Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam482 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam31 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam251 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam339 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam63 unilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E1487 bilateral rb germline nd DNA heterozygous familial Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E220 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E408 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided bilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E2462 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E218 bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E1324 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E3633 bilateral rb germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E4578 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided - - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E2481 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E3546 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided - germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E2869 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E5000 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided - - nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E4114 unilateral rb somatic nd DNA hemi/homozygous not reported Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam499 bilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam717 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam503 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam693 unilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam750 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam745 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam867 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam370 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam59 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - 7b bilateral rb germline blood DNA - isolated - 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - 39/98 bilateral rb germline blood DNA - isolated Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - 1163 unilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - 1223 unilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - 39 bilateral rb germline blood DNA - familial Sampieri et al. (2006) J Hum Genet 51: 209 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - RB20 bilateral rb germline retinoblastoma DNA heterozygous isolated de Andrade et al. (2006) Cancer Genet Cytogenet 167: 43 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - T28 unilateral rb - retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - F6444 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - F1771 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - 10 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - 11 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - T9 bilateral rb germline blood DNA - - Zhang et al. (2008) Hum Mutat 29: 475 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 somatic S85665 other cancer somatic tumor DNA - - COSMIC -COSM1029,Pellin et al., 1997 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 germline Rb18 bilateral rb germline blood DNA - isolated Ata-ur-Rasheed et al. (2002) Ophthalmic Genet.(2):121-8. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 somatic #390 unilateral rb mosaicism blood DNA unknown isolated Renieri- Siena 1 unpublished -
?/? g.73752G>A c.1216-1G>A Substitution 12_in Essential splice site - - unknown RB1_01481 somatic COR-L88 other cancer somatic tumor DNA - - COSMIC - COSM14211 1 published -
?/? g.70358G>A c.1216+29G>A substitution 12_in - variant - variant RB1_01039 - not provided no cancer - nd DNA - - Blanquet et al., 1993 1 published -
?/? g.71269G>A c.1216+940G>A substitution 12_in - variant - variant RB1_01079 - not provided no cancer - nd DNA - - - 1 published -
?/? g.71269G>A c.1216+940G>A substitution 12_in - variant - variant RB1_01079 - not provided - unknown nd DNA unknown unknown dbSNP 1 - -
?/? g.73752G>A c.1217-1G>A substitution 12_in altered splicing - - splice RB1_00198 - E699 unilateral rb germline blood DNA - isolated Lohmann et al., 1997 1 published -
?/? g.73752G>A c.1217-1G>A substitution 12_in altered splicing - - splice RB1_00198 - RB73 bilateral rb germline blood DNA - familial Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/? g.73869G>A c.1332G>A substitution 13_ex RT-PCR del:E13 - splice RB1_00095 - E518 unilateral rb germline blood DNA - isolated Lohmann et al., 1997 1 published -
?/? g.73869G>A c.1332G>A substitution 13_ex RT-PCR del:E13 - splice RB1_00095 - RB163 bilateral rb germline blood DNA - isolated Scheffer et al. (2000) J Med Genet 37:E6 1 published -
?/? g.73869G>A c.1332G>A substitution 13_ex RT-PCR del:E13 - splice RB1_00095 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.73870G>A c.1332+1G>A substitution 13_in skip exon 13 skip exon 13 - splice RB1_00202 - G1 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/? g.73870G>A c.1332+1G>A substitution 13_in skip exon 13 skip exon 13 - splice RB1_00202 - Yu45 bilateral rb germline retinoblastoma DNA heterozygous - Choy et al. (2002) Hum Mutat 20(5): 408. 1 published -
?/? g.73870G>A c.1332+1G>A substitution 13_in skip exon 13 skip exon 13 - splice RB1_00202 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.73870G>A c.1332+1G>A substitution 13_in skip exon 13 skip exon 13 - splice RB1_00202 - not provided - germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/? g.73870G>A c.1332+1G>A substitution 13_in skip exon 13 skip exon 13 - splice RB1_00202 - not provided - germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.73870G>A c.1332+1G>A substitution 13_in skip exon 13 skip exon 13 - splice RB1_00202 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.73870G>A c.1332+1G>A substitution 13_in skip exon 13 skip exon 13 - splice RB1_00202 - not provided bilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.73870G>A c.1332+1G>A substitution 13_in skip exon 13 skip exon 13 - splice RB1_00202 - CU016 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? g.73870G>A c.1332+1G>A
    + c.2359C>T		 substitution 13_in skip exon 13 skip exon 13 - splice RB1_00202 somatic E2550 unilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - new germline mutation
?/? g.76429G>A c.1333-1G>A substitution 13_in altered splicing - - splice RB1_00514 - HC1 unilateral rb germline retinoblastoma DNA isolated Braggio et al. (2004) J Clin Pathol 57(6): 585-90. 1 published -
?/? g.76442G>A c.1345G>A substitution 14_ex - p.Gly449Arg - missense RB1_01177 - F5054 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.76442G>A c.1345G>A substitution 14_ex - p.Gly449Arg - missense RB1_01177 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.76443G>A c.1346G>A substitution 14_ex - p.Gly449Glu - missense RB1_00396 - Fam478 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.76443G>A c.1346G>A substitution 14_ex - p.Gly449Glu - missense RB1_00396 - CU013 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
+/? g.76443G>A c.1346G>A substitution 14_ex - p.Gly449Glu - missense RB1_00396 unknown Tab_1_31 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/? g.76468G>A c.1371G>A substitution 14_ex - p.Met457Ile - missense RB1_00952 - Fam943 unilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.76487G>A c.1389+1G>A substitution 14_in altered splicing - - splice RB1_00504 - not provided unilateral rb germline blood DNA - isolated Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.76487G>A c.1389+1G>A substitution 14_in altered splicing - - splice RB1_00504 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.76491G>A c.1389+5G>A substitution 14_in altered splicing - - splice RB1_00205 - G1505 bilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/? g.76491G>A c.1389+5G>A substitution 14_in altered splicing - - splice RB1_00205 - JA223 bilateral rb germline blood DNA - isolated Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
101 - 200
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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

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