Variant #0000005690 (NC_000013.11:g.32332592A>C, BRCA2(NM_000059.3):c.1114A>C)

Individual ID 00000789
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 Florencia Petracchi-CEMIC
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     
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     
0000000917 DNA SEQ-NG CEMIC - 29-jun-2018 Specific pathology BRCA1, BRCA2 14 Florencia Petracchi-CEMIC