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LOVD - Variant listings for RB1

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+/+ g.45833A>T c.574A>T Substitution 06_ex - p.(Lys192*) - nonsense RB1_02096 germline E6493 bilateral rb germline blood DNA unknown isolated Lohmann, Germany:Essen 1 unpublished -
?/? g.45834_45835delAA c.575_576delAA Deletion 06_ex - - - frameshift RB1_01757 somatic ng_un_is_tu_444 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.45834delAAdelP_27 c.575_583del deletion 06_ex - - - frameshift RB1_00971 - Fam523 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.45834_45835del c.576_577del deletion 06_ex - p.(Lys192Asnfs*10) - frameshift RB1_00531 germline JA213 bilateral rb germline blood DNA - isolated Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/? g.45836del c.577del Deletion 6_ex - p.(Val193Phefs*8) - frameshift RB1_02035 germline P_20140723_100 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/? g.45838_4546delinsA c.579_587delinsA Insertion/Deletion 06_ex - p.(Ser194Hisfs*6) - frameshift RB1_02046 germline P_20140723_97 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/? g.45842dupT c.583dup Duplication 06_ex - p.Trp195Leufs*8 - frameshift RB1_01530 somatic NCI-H2107 other cancer somatic nd DNA - - COSMIC - COSM29799 1 - -
+?/+? g.45843T>C c.583T>C Substitution 06_ex - p.Trp195Arg - missense RB1_02101 germline E6717 unilateral rb germline blood DNA unknown isolated Lohmann, Germany:Essen 1 unpublished -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 -
+/? - c.584G>T Substitution 06_ex - p.(Trp195Leu) - missense RB1_02043 unknown Tab_1_27 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 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somatic ng_un_is_tu_172 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -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.45846T>C c.587T>C substitution 06_ex - p.Ile196Thr Ile196Thr unknown RB1_01323 - T27 unilateral rb - retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/+ g.45850dup c.591dup insertion 06_ex - p.Phe198Ilefs*5 - frameshift RB1_00982 germline E4151 bilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.45850insT c.591insT Insertion 06_ex - - - frameshift RB1_01701 somatic ng_un_is_tu_171 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.45851_45857del c.592_598del deletion 06_ex - p.(Phe198*) - frameshift RB1_00654 unknown Fam326 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.45855del c.596del deletion 06_ex - p.Leu199Tyrfs*2 - frameshift RB1_00728 germline E3902 - germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/+ g.45855dup c.596dup insertion 06_ex - p.(Leu199Phefs*4) - frameshift RB1_00887 unknown Fam103 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.45855T>A c.596T>A substitution 06_ex - p.Leu199X - nonsense RB1_00056 - FM55 other cancer somatic melanoma cell line DNA heterozygous - Bartkova et al., 1996 1 published melanoma
?/? g.45858T>A c.599T>A Substitution 06_ex - p.Leu200X - unknown RB1_01695 somatic ng_un_is_tu_155 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
+/+ g.45858T>G c.599T>G Substitution 06_ex - p.Leu200* - nonsense RB1_01668 germline E5830 bilateral rb germline blood DNA unknown isolated Germany:Essen 1 unpublished -
?/+ g.45861del c.602del deletion 06_ex - p.Ala201Valfs*13 - frameshift RB1_00057 unknown TS96 rb germline blood DNA not reported familial Liu et al., 1995 1 published -
?/+ g.45861del c.602del deletion 06_ex - p.Ala201Valfs*13 - frameshift RB1_00057 unknown not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.45863A>T c.604A>T substitution 06_ex - p.Lys202X - nonsense RB1_00972 - Fam821 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.45864_45867del c.605_608del deletion 06_ex - nonsense - frameshift RB1_00242 germline E1185 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.45864_45867delins10 c.605_608delins10 complex 06_ex altered splicing - - splice RB1_00421 germline E3047 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.45865del c.606del deletion 06_ex - p.Lys204Alafs*10 - frameshift RB1_00532 unknown JA363 bilateral rb germline blood DNA - isolated Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/+ g.45863del c.606del deletion 06_ex - p.Glu204Lysfs*10 - frameshift RB1_01359 unknown RB-50 bilateral rb germline blood DNA - - - 1 published -
?/? g.45866_45867ins74 c.607_608ins74 Insertion 06_ex - - - unknown RB1_01599 unknown bilateral_55 bilateral rb - tumor DNA - isolated not reported - Diana Rushlow 1 unpublished -
?/+ g.45866_45869del c.607_610del deletion 06_ex - - - frameshift RB1_00869 - Fam720 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.45866_45869delins10 c.607_610delins10 Other/Complex 06_ex - - - frameshift RB1_01600 germline bilateral_56 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow 1 unpublished -
?/? g.45867del c.607+1del deletion 06_in altered splicing - - splice RB1_00472 - E3358T bilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.45867del c.607+1del deletion 06_in altered splicing - - splice RB1_00472 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? 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.45867G>C c.607+1G>C substitution 06_in altered splicing - - splice RB1_00192 - G381 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/? g.45867G>C c.607+1G>C substitution 06_in altered splicing - - splice RB1_00192 - E500 bilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/? g.45867G>C c.607+1G>C substitution 06_in altered splicing - - splice RB1_00192 - not provided bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.45867G>C c.607+1G>C substitution 06_in altered splicing - - splice RB1_00192 - not provided bilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.45867G>C c.607+1G>C substitution 06_in altered splicing - - splice RB1_00192 - not provided bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.45867G>C c.607+1G>C substitution 06_in altered splicing - - splice RB1_00192 - not provided - germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/? g.45867G>C c.607+1G>C substitution 06_in altered splicing - - splice RB1_00192 - case 1 unilateral rb germline blood DNA - isolated Zajaczek et al. (1999) Eur J Cancer 35(13):1824 1 published -
?/? g.45867G>C c.607+1G>C substitution 06_in altered splicing - - splice RB1_00192 - T37 unilateral rb - retinoblastoma DNA - familial Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/? g.45867G>C c.607+1G>C
    + c.1633G>T		 substitution 06_in altered splicing - - splice RB1_00192 germline E5196 bilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - -
+/? g.45867G>C c.607+1G>C substitution 06_ex altered splicing - - splice RB1_00192 unknown Tab_1_20 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/? g.45867G>T c.607+1G>T substitution 06_in altered splicing - - splice RB1_00191 - G162 bilateral rb germline inherited blood DNA - familial Lohmann et al., 1996 1 published -
?/? g.45867G>T c.607+1G>T substitution 06_in altered splicing - - splice RB1_00191 - 1 unilateral rb germline blood DNA not reported isolated Zajaczek et al., 1998 1 published -
?/? g.45867G>T c.607+1G>T substitution 06_in altered splicing - - splice RB1_00191 - not provided bilateral rb germline inherited blood DNA - familial lp Klutz et al. (2002) Am J Hum Genet 71:174-9 1 published -
?/? g.45867G>T c.607+1G>T substitution 06_in altered splicing - - splice RB1_00191 - Fam621 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.45867G>T c.607+1G>T substitution 06_in altered splicing - - splice RB1_00191 - Fam443 unilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.45867G>T c.607+1G>T substitution 06_in altered splicing - - splice RB1_00191 - JA123 unilateral rb germline blood DNA - familial lp Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/? g.45867G>T c.607+1G>T substitution 06_in altered splicing - - splice RB1_00191 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.45867G>T c.607+1G>T substitution 06_in altered splicing - - splice RB1_00191 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.45867G>T c.607+1G>T substitution 06_in altered splicing - - splice RB1_00191 - not provided - germline nd DNA heterozygous familial Lohmann - Essen 1 unpublished -
?/? g.45867G>T c.607+1G>T substitution 06_in altered splicing - - splice RB1_00191 - not provided - germline nd DNA hemi/homozygous familial Lohmann - Essen 1 unpublished -
?/? g.45867G>T c.607+1G>T substitution 06_in altered splicing - - splice RB1_00191 - not provided bilateral rb germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.45867G>T c.607+1G>T substitution 06_in altered splicing - - splice RB1_00191 - Fam900 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.45867G>T c.607+1G>T substitution 06_in altered splicing - - splice RB1_00191 - Fam744 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.45867G>T c.607+1G>T substitution 06_in altered splicing - - splice RB1_00191 - 2b bilateral rb germline blood DNA - familial - 1 published -
?/? g.45867G>T c.607+1G>T substitution 06_in altered splicing - - splice RB1_00191 - CU006 unilateral rb germline blood DNA - familial Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? g.45867G>T c.607+1G>T substitution 06_in altered splicing - - splice RB1_00191 - not provided - germline blastomere cells DNA - familial Sütterlin et al. (1999) Prenat. Diagn. 19(13):1231 1 published -
?/? g.45867G>T c.607+1G>T substitution 06_in altered splicing - - splice RB1_00191 - F3664 rb germline blood DNA - familial lp Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.45867G>T c.607+1G>T substitution 06_in altered splicing - - splice RB1_00191 - F3420 rb germline blood DNA - familial lp Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.45867G>T c.607+1G>T substitution 06_in altered splicing - - splice RB1_00191 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.45867G>T c.607+1G>T substitution 06_in altered splicing - - splice RB1_00191 - 25 474 unilateral rb unknown nd DNA unknown familial Munier - Lausanne 1 - Father affected
?/? g.45867G>T c.607+1G>T substitution 06_in altered splicing - - splice RB1_00191 unknown 25474 unilateral rb unknown nd DNA heterozygous - Munier - Lausanne 1 - Mutation was found in father as well
?/? g.45867insC c.607+1_607+2insC insertion 06_in altered splicing - - splice RB1_01274 - 1063 unilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? g.45868T>G c.607+2T>G substitution 06_in altered splicing - - splice RB1_00538 - JA183 bilateral rb germline blood DNA - isolated Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/? g.45885delT c.607+19delT Deletion 06_in - - - unknown RB1_01834 unknown rs66464450 - - nd DNA - - dbSNP 1 published -
?/? g.45898delT c.607+32delT Deletion 06_in - - - unknown RB1_01835 somatic rs67941527 no cancer somatic nd DNA - - dbSNP 1 published -
?/? g.46065T>A c.607+199T>A substitution 06_in - variant - variant RB1_01019 - not provided no cancer germline blood DNA - - dbSNP 1 published originally published: Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409
?/? g.53437A>G c.608-3416A>G substitution 06_in - new exon - splice RB1_00929 - Fam654 bilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.53437A>G c.608-3416A>G substitution 06_in - new exon - splice RB1_00929 - T1 bilateral rb germline blood DNA - - Zhang et al. (2008) Hum Mutat 29: 475 1 published -
?/? g.56762T>C c.608-91T>C Substitution 06_in - - - unknown RB1_01836 somatic 1KG_13_48934062 no cancer somatic nd DNA - - http://www.1000genomes.org/ 1 published -
?/? g.56822C>T c.608-31C>T substitution 06_in - variant - variant RB1_01021 - not provided no cancer germline blood DNA - - dbSNP 1 published Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409
?/? g.56826C>T c.608-27C>T substitution 06_in - - - - RB1_01066 - E2621 unilateral rb - nd DNA - - Lohmann - Essen 1 published -
?/? g.56829T>A c.608-24T>A substitution 06_in - variant - variant RB1_01020 - G32 no cancer - blood DNA - - Lohmann et al., 1996 1 published -
?/? g.56834delA c.608-19delA Substitution 06_in - - - unknown RB1_01837 somatic rs66534747 no cancer somatic nd DNA - - dbSNP 1 published -
?/? g.56841T>G c.608-12T>G substitution 06_in altered splicing - - splice RB1_00943 - Fam730 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.56851A>G c.608-2A>G substitution 06_in altered splicing - - splice RB1_01256 - 5 unilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/? g.56851A>G c.608-2A>G substitution 06_in altered splicing - - splice RB1_01256 unknown 21 878 unilateral rb unknown nd DNA - - Munier - Lausanne 1 - Mutation found in twin brother but not in parents
?/? g.56852del c.608-1del deletion 06_in altered splicing - - splice RB1_00545 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.56852del c.608-1del deletion 06_in altered splicing - - splice RB1_00545 - not provided bilateral rb germline blood DNA - isolated Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/? 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.56905_56906del c.660_661del Deletion 06_ex - p.(Val222Profs*2) - frameshift RB1_02047 germline P_20140723_106 unilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
+?/? g.48934137_48934153del c.608-16_608del Deletion 7 r.608_718del p.(Gly203_Lys240delinsGlu) - in-frame RB1_02115 germline #4675/17 unilateral rb - blood RNA - familial low penetrance Italy:Siena 1 unpublished parental of origin effect
?/? 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.56855del c.610del deletion 07_ex - - - frameshift RB1_00872 - Fam349 bilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.56855del c.610del deletion 07_ex - - - frameshift RB1_00872 - Fam594 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.56855del c.610del deletion 07_ex - - - frameshift RB1_00872 somatic NCI-H2228 other cancer somatic nd DNA - - COSMIC - COSM25275 1 published -
?/+ g.56855dup c.610dup insertion 07_ex - - - frameshift RB1_00733 somatic E4022 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
+/+ g.56855G>T c.610G>T Substitution 07_ex - p.(Glu204*) - nonsense RB1_01954 germline E6346 unilateral rb germline blood and tumor DNA LOH isolated Lohmann, Germany:Essen 1 unpublished -
?/? g.56855_56856insG c.610_611insG Insertion 07_ex - - - frameshift RB1_01603 somatic bilateral_76 bilateral rb mosaicism nd DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.56857A>G c.612A>G substitution 07_ex - p.Glu204Glu Glu204Glu unknown RB1_01369 - RB-67 bilateral rb germline blood DNA - isolated Parsam et al. (2009) J Genet. 2009 Dec;88(4):517-27. 1 published -
501 - 600
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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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