Variant #0000003279 (NC_000013.11:g.32332592A>C, NM_000059.3:c.1114A>C (BRCA2))

Individual ID 00000407
Chromosome 13
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.32332592A>C
Reference -
DB-ID BRCA2_000007 See all 232 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Gonzalo Tabares-CEMA
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Date created 2018-01-18 16:41:30 -02:00 (-02)
Date last edited N/A
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
Exon     
DNA change (cDNA)     
RNA change     
Protein     
Zygosity     
Co_ocurrence     
Review status     
BRCA2 NM_000059.3 -/- 10 c.1114A>C r.(?) p.(Asn372His) Hetero BRCA2 -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000000460 DNA SEQ-NG;z-score-CNV Héritas - 22-oct-2017 Multigenetic panel ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 8 Gonzalo Tabares-CEMA

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