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LOVD - Variant listings for RB1

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?/+ g.70280T>A c.1166T>A substitution 12_ex - p.Leu389X - nonsense RB1_00083 - RB232 unilateral rb somatic retinoblastoma DNA hemi/homozygous - Shimizu et al., 1994 1 published -
?/+ g.70280T>A c.1166T>A substitution 12_ex - p.Leu389X - nonsense RB1_00083 - F5218 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.70281_70282insT c.1167_1168insT Insertion 12_ex - g.70281_70282insT - unknown RB1_01546 unknown rs67850338 - unknown nd DNA - - dbSNP 1 published -
?/+ g.70281_70288del c.1167_1174del deletion 12_ex - p.Leu389Phefs*3 - frameshift RB1_00084 unknown HCC1C other tumor somatic Hepatocellular Carcinoma DNA heterozygous - Zhang et al., 1994 1 published -
?/? 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.70287A>T c.1173A>T Substitution 12_ex - - - unknown RB1_01822 somatic rs1049722 - unknown nd DNA - - dbSNP 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.70291delA c.1177delA Deletion 12_ex - - - frameshift RB1_01731 somatic ng_un_is_tu_308 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.70291delAinsTT c.1177delAinsTT Other/Complex 12_ex - - - frameshift RB1_01741 somatic ng_un_is_tu_369 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.70292_70293del c.1179_1180del deletion 12_ex - p.Ser393Argfs*12 - frameshift RB1_00085 unknown TS22 bilateral rb germline blood DNA not reported isolated Liu et al., 1995 1 published -
?/+ g.70292_70293del c.1179_1180del deletion 12_ex - p.Ser393Argfs*12 - frameshift RB1_00085 unknown TS22 bilateral rb germline blood DNA not reported isolated Liu et al., 1995 1 published -
?/+ 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.70303del c.1189del Deletion 12_ex - p.(Ser397Glnfs*4) - frameshift RB1_02061 germline P_20140723_200 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/+ g.70304C>A c.1190C>A substitution 12_ex - p.Ser397X - nonsense RB1_00291 - not provided unilateral rb somatic retinoblastoma DNA - - - 1 unpublished -
?/+ g.70304C>A c.1190C>A substitution 12_ex - p.Ser397X - nonsense RB1_00291 - not provided bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.70304C>A c.1190C>A substitution 12_ex - p.Ser397X - nonsense RB1_00291 - 7 bilateral rb - retinoblastoma DNA - - Van Orsouw et al. (1996) Hum Mol Genet 5: 755 1 published -
?/? g.70304delC c.1190delC Deletion 12_ex - p.(Ser397*) - unknown RB1_01547 somatic D-336MG other cancer somatic nd DNA - - COSMIC - COSM19455 1 published -
?/? g.70304delC c.1190delC Deletion 12_ex - p.(Ser397*) - unknown RB1_01547 somatic D-336MG other cancer somatic nd DNA - - COSMIC - COSM19453 1 published -
?/+ g.70305del c.1191del deletion 12_ex - p.Glu398Lysfs*3 - frameshift RB1_00662 unknown Fam314 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.70306G>T c.1192G>T substitution 12_ex - p.Glu398X - nonsense RB1_00228 germline E721 bilateral rb - nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.70306insA c.1192insA Insertion 12_ex - - - frameshift RB1_01722 somatic ng_un_is_tu_260 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.70307del c.1193del deletion 12_ex - p.(Asn399Ilefs*2) - frameshift RB1_00755 unknown 6b rb germline nd DNA - - JL Gala - Brussels 1 unpublished -
?/+ g.70309_70310del c.1195_1196del deletion 12_ex - p.Asn399Serfs*6 - frameshift RB1_00478 germline E3757 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.70310del c.1196del deletion 12_ex - p.Asn399Ilefs*2 - frameshift RB1_00580 unknown 6b bilateral rb germline blood DNA - familial - 1 published -
?/+ g.70310dup c.1196dup insertion 12_ex - p.Asn399Lysfs*7 - frameshift RB1_00387 unknown Fam522 bilateral rb germline nd DNA - - not reported, BL Gallie - Toronto 1 unpublished -
?/? g.70311_70328del c.1197_1214del Deletion 12_ex - p.(Leu400_Asn405del) - unknown RB1_02062 germline P_20140723_197 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/+ g.70313dup c.1199dup insertion 12_ex - p.Ile401Aspfs*5 - frameshift RB1_00300 somatic E2230 unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.70313_70319del c.1199_1205del deletion 12_ex - p.Leu400Profs*8 - frameshift RB1_01242 unknown Rb80 rb germline blood DNA - - Tsai et al. (2004) Arch Ophthalmol 122:239 1 published -
?/+ g.70313_70319del c.1199_1205del deletion 12_ex - p.Leu400Profs*8 - frameshift RB1_01242 unknown not provided bilateral rb germline blood DNA - isolated Tsai et al. (2005) Ophthalmic Genetics 26:107 1 published -
?/+ g.70318del c.1204del deletion 12_ex - p.(Ser402Profs*8) - frameshift RB1_00428 somatic E3122 unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? 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.70323_70327del c.1209_1213del deletion 12_ex - p.(Tyr403*) - frameshift RB1_00264 somatic E1493 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.70326del c.1212del deletion 12_ex - - - frameshift RB1_00732 germline E4095 bilateral rb germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/? g.70328_70337del10 c.1214_1215+8del10 Deletion 12_ex splice_donor del - - splice RB1_01885 unknown Supp_Tab_Mt-53 - - nd DNA - - Price et al., 2013 1 published -
?/? 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.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 -
1301 - 1400
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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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