Variant #0000011334 (NC_000013.11:g.48459729C>T, RB1(NM_000321.2):c.2002C>T)

Individual ID 00004123
Chromosome 13
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.48459729C>T
Reference -
DB-ID RB1_000011
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Luisina Bruno-Instituto Fleming
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
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DNA change (cDNA)     
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RNA change     
Review status     
RB1 NM_000321.2 ?/? 10i c.2002C>T p.(Arg668Cys) Hetero no r.(?) -



Screenings


AscendingScreening ID     
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Variants found     
Owner     
0000004457 DNA SEQ-NG CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS Hereditary cancer panel (NGS) — Gene panel: ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA,PMS2,POLD1,POLE,POT1,PTEN,RAD50,RAD51B,RAD51C,RAD51D,RB1,RET,RINT1,SDHA,SDHAF2,SDHB,SDHC,SDHD,SMAD4,SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2. 19-Mar-2025 Multigenetic panel - 2 Luisina Bruno-Instituto Fleming

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