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LOVD - Variant listings for RB1

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79 public entries
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?/+ 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 -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam129 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam408 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam130 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam143 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam458 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam611 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Rb14 unilateral rb germline blood DNA - - Choy et al. (2002) Hum Mutat 20(5): 408. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - JA523 bilateral rb germline blood DNA - isolated Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Rb 200 rb germline blood DNA - - Tsai et al. (2004) Arch Ophthalmol 122:239 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E3576 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided bilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E2398 bilateral rb germline nd DNA heterozygous familial Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E1217 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E1223 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided bilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided - germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E5417 bilateral rb germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E2644 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E2685 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E364 bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E3294 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E3806 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided bilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided - somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam502 bilateral 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 - Fam646 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 - Fam381 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam437 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam546 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam647 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam696 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam822 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam854 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam959 unilateral rb somatic retinoblastoma DNA - not reported not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam716 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam960 bilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam214 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam914 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 - 9b bilateral rb germline blood DNA - isolated - 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided - germline nd DNA - - - 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - 86/97 bilateral rb germline blood DNA - isolated Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - CO345 bilateral rb germline blood DNA - familial Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - 12 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - SR10T bilateral rb germline retinoblastoma DNA - isolated Kontic et al. (2006) J Hum Genet 51: 909 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - SR02T unilateral rb somatic retinoblastoma DNA - isolated Kontic et al. (2006) J Hum Genet 51: 909 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - RB-54 bilateral rb germline blood DNA - isolated - 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - F5; pt# 10 bilateral retinoma germline blood DNA - familial - 1 published -
+/? g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - IRB16 bilateral rb germline Retinoblastoma Tumor DNA hemi/homozygous isolated Iran:Tehran 1 - -
+/? g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - IRB18 bilateral rb germline Retinoblastoma Tumor DNA hemi/homozygous isolated Iran:Tehran 1 - -
?/? g.76430C>T c.1333C>T
    + c.751C>T		 substitution 14_ex - p.Arg445X - nonsense RB1_00003 germline E579 bilateral rb germline tumor DNA heterozygous familial Lohmann - Essen, Germany:Essen 1 unpublished -
?/? g.76430C>T c.1333C>T
    + c.1735C>T		 substitution 14_ex - p.Arg445X - nonsense RB1_00003 germline E2150 bilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - new germline mutation
?/? g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 somatic Patient 2 unilateral rb somatic tumor DNA - - Kumaramanickavel et al., (2003), J Genet.82(1-2):39-44. 1 published -
?/? g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 unknown not provided - - nd DNA - - dbSNP 1 - -
?/? g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 germline #8 bilateral rb germline blood DNA - isolated Seo et al., 2012 1 published -
?/? g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 unknown Tab_1_8 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
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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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