Variant #0000006783 (NC_000002.12:g.214728742C>G, BARD1(NM_000465.3):c.2268G>C)

Individual ID 00001138
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.214728742C>G
Reference -
DB-ID BARD1_000011
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Claudia Martin-Hospital de Córdoba
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

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DNA change (cDNA)     

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Review status     
BARD1 NM_000465.3 ?/? 11 c.2268G>C p.(Trp756Cys) Hetero no r.(?) -



Screenings


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Owner     
0000001364 DNA CNV;SEQ-NG Hospital Privado Centro Médico de Córdoba Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53) 14-may-2019 Multigenetic panel - 3 Claudia Martin-Hospital de Córdoba