Variant #0000010080 (NC_000017.11:g.43063918T>C, BRCA1(NM_007294.4):c.5108A>G)

Individual ID 00003011
Chromosome 17
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.43063918T>C
Reference -
DB-ID BRCA1_000218
dbSNP ID rs876660071
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marcela Lopez-CEMAFE
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     
Exon     
DNA change (cDNA)     
RNA change     
Protein     
Zygosity     
Co_ocurrence     
Review status     
BRCA1 NM_007294.4 +?/+? 17 c.5108A>G r.? p.(Tyr1703Cys) Hetero no -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000003327 DNA SEQ-NG;CNV CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RINT1, SDHA, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TP53, TSC1, TSC2, VHL, XRCC2. 22-dec-2021 Multigenetic panel - 2 Marcela Lopez-CEMAFE

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