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LOVD - Variant listings for RB1

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?/? g.1023G>A c.-1037G>A substitution 00_up - variant - variant RB1_00996 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.1848G>A c.-212G>A substitution 00_up - - - promoter RB1_00926 - Fam35 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.1862G>A c.-198G>A substitution 00_up - SP1-recognition - promoter RB1_00018 - family 229 rb germline blood DNA not reported familial lp Sakai et al., 1991 1 published -
?/? g.1862G>A c.-198G>A substitution 00_up - SP1-recognition - promoter RB1_00018 - 3 unilateral rb germline blood DNA not reported isolated Zajaczek et al., 1998 1 published -
?/? g.1862G>A c.-198G>A substitution 00_up - SP1-recognition - promoter RB1_00018 - E635 bilateral rb germline blood DNA unknown familial Lohmann - Essen 1 unpublished -
?/? g.1862G>A c.-198G>A substitution 00_up - SP1-recognition - promoter RB1_00018 - E1696 - germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.1862G>A c.-198G>A substitution 00_up - SP1-recognition - promoter RB1_00018 - case 3 unilateral rb germline blood DNA - isolated Zajaczek et al. (1999) Eur J Cancer 35(13):1824 1 published -
?/? g.1863G>A c.-197G>A substitution 00_up - - - promoter RB1_00928 - Fam550 bilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/? g.2196G>A c.137G>A substitution 01_ex - p.Arg46Lys/splice Arg46Lys/splice missense-splice RB1_00372 - Fam450 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.2196G>A c.137G>A substitution 01_ex - p.Arg46Lys/splice Arg46Lys/splice missense-splice RB1_00372 - E2144T unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.2196G>A c.137G>A substitution 01_ex - p.Arg46Lys/splice Arg46Lys/splice missense-splice RB1_00372 - RB-52 bilateral rb germline blood DNA - isolated Parsam et al. (2009) J Genet. 2009 Dec;88(4):517-27. 1 published -
?/? g.2196G>A c.137G>A substitution 01_ex - p.Arg46Lys/splice Arg46Lys/splice missense-splice RB1_00372 - F2; pt# 2 unilateral rb/retinoma germline blood DNA - familial Abouzeid et al. (2009), Mol Vis.;15:771-7 1 published -
?/? g.2196G>A c.137G>A substitution 01_ex - p.Arg46Lys/splice Arg46Lys/splice missense-splice RB1_00372 - F2; pt# 3 unilateral retinoma germline blood DNA - familial Abouzeid et al. (2009), Mol Vis.;15:771-7 1 published -
?/? g.2196G>A c.137G>A substitution 01_ex - p.Arg46Lys/splice Arg46Lys/splice missense-splice RB1_00372 - F2; pt# 4 unilateral retinoma germline blood DNA - familial Abouzeid et al. (2009), Mol Vis.;15:771-7 1 published -
?/? g.2196G>A c.137G>A substitution 01_ex - p.Arg46Lys/splice Arg46Lys/splice missense-splice RB1_00372 - nd retinoblastoma - nd DNA - - - 1 - is cosegregating with phenotype in one family
?/? g.2197G>A c.137+1G>A substitution 01_in altered splicing - - splice RB1_01250 - 50 bilateral rb germline blood DNA - isolated Sampieri et al. (2006) J Hum Genet 51: 209 1 published -
?/? g.2302G>A c.137+106G>A substitution 01_in - variant - variant RB1_00986 - not provided no cancer - nd DNA - - - 1 published -
?/? g.2302G>A c.137+106G>A substitution 01_in - variant - variant RB1_00986 - not provided no cancer germline blood DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/? g.2302G>A c.137+106G>A substitution 01_in - variant - variant RB1_01096 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.5423G>A c.138-1G>A substitution 01_in altered splicing - - splice RB1_00968 - Fam450 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.5423G>A c.138-1G>A substitution 01_in altered splicing - - splice RB1_00968 - E4059 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.2297G>A c.2196+2G>A Substitution 01_in - - - unknown RB1_01793 somatic noge_uni_is_148 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.5510G>A c.224G>A substitution 02_ex - p.Trp75X - nonsense RB1_00494 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.5510G>A c.224G>A substitution 02_ex - p.Trp75X - nonsense RB1_00494 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.5510G>A c.224G>A substitution 02_ex - p.Trp75X - nonsense RB1_00494 - F3100 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.5510G>A c.224G>A substitution 02_ex - p.Trp75X - nonsense RB1_00494 somatic LU-134-A - somatic tumor DNA - - COSMIC - COSM13408 1 published -
+/? - c.224G>A Substitution 02_ex - p.(Trp75*) - nonsense RB1_02036 unknown Tab_1_2 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/? g.5511G>A c.225G>A Substitution 02_ex Stop gained p.Trp75X - unknown RB1_01495 somatic Br121X - somatic tumor DNA - - COSMIC - COSM39160, Parsons et al, 2008 1 published -
+/? g.5510G>A c.225G>A Substitution 2 - - - nonsense RB1_01495 germline 523 bilateral rb germline leukocytes DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
?/? g.5520G>A c.234G>A Substitution 02_ex Stop gained p.Trp78X - unknown RB1_01496 somatic SK-PN-DW other cancer somatic tumor DNA - - COSMIC - COSM13406 1 published -
?/? g.5550G>A c.264G>A substitution 02_ex p.Leu88Leu/skip p.Leu88Leu/skip - splice RB1_00362 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.5550G>A c.264G>A substitution 02_ex p.Leu88Leu/skip p.Leu88Leu/skip - splice RB1_00362 - not provided - germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.5550G>A c.264G>A substitution 02_ex p.Leu88Leu/skip p.Leu88Leu/skip - splice RB1_00362 - Fam542 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.5551G>A c.264+1G>A substitution 02_in skip exon 2 skip exon 2 - splice RB1_00788 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.5551G>A c.264+1G>A substitution 02_in skip exon 2 skip exon 2 - splice RB1_00788 - Fam460 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.5551G>A c.264+1G>A substitution 02_in skip exon 2 skip exon 2 - splice RB1_00788 - Fam315 bilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/? g.5551G>A c.264+1G>A substitution 02_in skip exon 2 skip exon 2 - splice RB1_00788 germline bilateral_22 bilateral rb germline blood DNA - familial not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.5555G>A c.264+5G>A substitution 02_in skip exon 2 skip exon 2 - splice RB1_01149 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.17231G>A c.264+11681G>A substitution 02_in - variant - variant RB1_01078 - not provided no cancer - nd DNA - - - 1 published -
?/? g.39445G>A c.265-1G>A Substitution 02_in altered splicing - - unknown RB1_01475 somatic Br111X other cancer somatic tumor DNA - - COSMIC - COSM39409, Parsons et al, 2008 1 published -
?/+ g.39477G>A c.296G>A substitution 03_ex - p.Trp99X - nonsense RB1_00039 - G349 rb germline blood DNA - familial Lohmann et al., 1996 1 published -
?/+ g.39478G>A c.297G>A substitution 03_ex - p.Trp99X - nonsense RB1_00040 - RB244 bilateral rb germline blood DNA not reported - Blanquet et al., 1995 1 published -
?/+ g.39478G>A c.297G>A substitution 03_ex - p.Trp99X - nonsense RB1_00040 - Yu50 unilateral rb germline blood DNA - isolated Choy et al. (2002) Hum Mutat 20(5): 408. 1 published -
?/+ g.39478G>A c.297G>A substitution 03_ex - p.Trp99X - nonsense RB1_00040 - not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.39478G>A c.297G>A substitution 03_ex - p.Trp99X - nonsense RB1_00040 - T11 unilateral rb - retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/+ g.39478G>A c.297G>A substitution 03_ex - p.Trp99X - nonsense RB1_00040 - F5243 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.39561G>A c.380G>A substitution 03_ex altered splicing p.Ser127Asn Ser127Asn splice RB1_00464 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.39561G>A c.380G>A substitution 03_ex altered splicing p.Ser127Asn Ser127Asn splice RB1_00464 - not provided - somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.39561G>A c.380G>A substitution 03_ex altered splicing p.Ser127Asn Ser127Asn splice RB1_00464 - 2 - - blood DNA - - - 1 unpublished Hispanic patient
?/? g.39561G>A c.380G>A substitution 03_ex altered splicing p.Ser127Asn Ser127Asn splice RB1_00464 - 7 bilateral rb - blood DNA - - - 1 unpublished Caucasian/Hispanic
?/? g.39561G>A c.380G>A substitution 03_ex altered splicing p.Ser127Asn Ser127Asn splice RB1_00464 - 1516 unilateral rb - nd DNA - - - 1 - Tumor has hetero methylation of the promoter and hetero c.380G>A at last base of exon 3; reduces splice score from 81 to 69. Blood N.
?/? g.39562G>A c.380+1G>A substitution 03_in altered splicing - - splice RB1_00188 - E513 bilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/? g.39562G>A c.380+1G>A substitution 03_in altered splicing - - splice RB1_00188 - not provided bilateral rb germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.39562G>A c.380+1G>A substitution 03_in altered splicing - - splice RB1_00188 somatic 380 other cancer somatic lung DNA - - COSMIC - COSM29771 1 published -
?/? g.39562G>A c.380+1G>A substitution 03_in altered splicing - - splice RB1_00188 germline #2 bilateral rb germline blood DNA - isolated Seo et al., 2012 1 published -
?/? g.41868G>A c.381-58G>A substitution 03_in - variant - variant RB1_01098 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.42046G>A c.500+1G>A Substitution 04_in splice - - splice RB1_01597 somatic bilateral_44 bilateral rb mosaicism blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.44591G>A c.501-77G>A substitution 04_in - variant - variant RB1_01015 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.44591G>A c.501-77G>A substitution 04_in - variant - variant RB1_01015 - not provided - unknown nd DNA unknown unknown dbSNP 1 - -
?/? g.44630G>A c.501-38G>A substitution 04_in - variant - variant RB1_01016 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.44630G>A c.501-38G>A substitution 04_in - variant - variant RB1_01016 - not provided - unknown nd DNA unknown unknown dbSNP 1 - -
?/? g.44667G>A c.501-1G>A substitution 04_in altered splicing - - splice RB1_00190 - RB313 bilateral rb germline blood DNA not reported - Blanquet et al., 1995 1 published -
?/? g.44667G>A c.501-1G>A substitution 04_in altered splicing - - splice RB1_00190 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.45798G>A c.501-1G>A substitution 05_in altered splicing - - splice RB1_00193 - DUM (RB165) bilateral rb germline blood DNA not reported - Blanquet et al., 1993 1 published -
?/? g.45798G>A c.501-1G>A substitution 05_in altered splicing - - splice RB1_00193 - Fam577 unilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.45798G>A c.501-1G>A substitution 05_in altered splicing - - splice RB1_00193 - Fam632 bilateral rb germline nd DNA - not reported Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 unpublished -
?/? g.45798G>A c.501-1G>A substitution 05_in altered splicing - - splice RB1_00193 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.45798G>A c.501-1G>A substitution 05_in altered splicing - - splice RB1_00193 - Fam796 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.44707G>A c.539+1G>A substitution 05_in altered splicing - - splice RB1_00598 - RB-327 unilateral rb somatic blood DNA - familial lp Sanchez et al. (2000) J Med Genet 37(8): 615-20. 1 published -
?/? g.45798G>A c.540-1G>A Substitution 05_in splice - - splice RB1_01598 germline bilateral_54 bilateral rb germline blood DNA - unknown not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.45843G>A c.584G>A substitution 06_ex - p.Trp195X - nonsense RB1_00963 somatic Fam2 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.45843G>A c.585G>A Substitution 06_ex - p.Trp195X - unknown RB1_01702 somatic ng_un_is_tu_172 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.45867G>A c.607+1G>A substitution 06_in altered splicing - - splice RB1_00241 - Fam532 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.45867G>A c.607+1G>A substitution 06_in altered splicing - - splice RB1_00241 - Fam37 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.45867G>A c.607+1G>A substitution 06_in altered splicing - - splice RB1_00241 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.45867G>A c.607+1G>A substitution 06_in altered splicing - - splice RB1_00241 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.45867G>A c.607+1G>A substitution 06_in altered splicing - - splice RB1_00241 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.45867G>A c.607+1G>A substitution 06_in altered splicing - - splice RB1_00241 - not provided bilateral rb - nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.45867G>A c.607+1G>A substitution 06_in altered splicing - - splice RB1_00241 - not provided - - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.45867G>A c.607+1G>A substitution 06_in altered splicing - - splice RB1_00241 - 23 bilateral rb - retinoblastoma DNA - - Van Orsouw et al. (1996) Hum Mol Genet 5: 755 1 published -
?/? g.45867G>A c.607+1G>A substitution 06_in altered splicing - - splice RB1_00241 germline 2b bilateral rb germline blood DNA - familial Brichard et al. (2006), Eur J Cancer.Jan;42(1):65-72. 1 - two affected brothers, mother affected
?/? g.45866G>A c.608-1G>A substitution 06_in altered splicing - - splice RB1_00870 - Fam46 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.56854G>A c.609G>A substitution 07_ex altered splicing - - splice RB1_00689 - not provided - - nd DNA - - Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.56968G>A c.718+5G>A substitution 07_in altered splicing - - splice RB1_00524 - 1 bilateral rb germline blood DNA - isolated Jakubowska,et al. (2001) Hum Mutat 18(5): 459. 1 published -
?/? g.56968G>A c.718+5G>A substitution 07_in altered splicing - - splice RB1_00524 - Fam919 unilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.57101G>A c.718+138G>A substitution 07_in - variant - variant RB1_01024 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.59793G>A c.861G>A Substitution 08_ex Splice p.(=) - splice RB1_01878 unknown Supp_Tab_Mt-37 - - nd DNA - - Price et al., 2013 1 published -
?/? g.59794G>A c.861+1G>A Substitution 08_in splice - - splice RB1_01677 somatic ge_uni_iso_tu15 unilateral rb mosaicism blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.61729G>A c.862-1G>A Substitution 08_in splice_acceptor - - splice RB1_01883 unknown Supp_Tab_Mt-39 - - nd DNA - - Price et al., 2013 1 published -
?/? g. 61729G>A c.862-1G>A Substitution 09_in Splice site - - unknown RB1_01574 germline RB3tunesia bilateral rb germline blood DNA - familial - 1 - -
?/-? g.61797G>A c.929G>A substitution 09_ex - p.Gly310Glu - missense RB1_01029 - not provided no cancer - nd DNA - - Klutz et al ., 1999 1 published -
?/? g.61797G>A c.929G>A substitution 09_ex - p.Gly310Glu - missense variant RB1_00070 - not provided unilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.61797G>A c.929G>A substitution 09_ex - p.Gly310Glu Gly310Glu missense variant RB1_00070 - 9 unilateral rb - Blood/Tumor DNA - - - 1 unpublished Caucasian
?/? g.61797G>A c.929G>A substitution 09_ex - p.Gly310Glu - missense variant RB1_00070 unknown 14 254 bilateral rb unknown nd DNA unknown unknown Munier - Lausanne 1 - Mutation found in father
?/? g.61807G>A c.939G>A substitution 09_ex - del:e9/p.Glu313Asp - missense-splice RB1_00377 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.61807G>A c.939G>A substitution 09_ex - del:e9/p.Glu313Asp - missense-splice RB1_00377 - E2639 - germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.61807G>A c.939G>A substitution 09_ex - del:e9/p.Glu313Asp - missense-splice RB1_00377 - Fam138 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.61807G>A c.939G>A substitution 09_ex - del:e9/p.Glu313Asp - missense-splice RB1_00377 - E7 bilateral rb germline blood DNA - - Zhang et al. (2008) Hum Mutat 29: 475 1 published -
?/? g.64329G>A c.940-1G>A Substitution 09_in splice - - splice RB1_01709 somatic ng_un_is_tu_204 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 - -
?/? g.61808G>A c.940G>A Substitution 09_in - - - unknown RB1_01461 unknown 22 682 unilateral rb - nd DNA - - Munier - Lausanne 1 - -
1 - 100
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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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