Variant #0000002318 (NC_000013.11:g.32340264C>A, BRCA2(NM_000059.3):c.5909C>A)

Individual ID 00000257
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.32340264C>A
Reference -
DB-ID BRCA2_000040 See all 3 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 +/+ 11 c.5909C>A r.(?) p.(Ser1970*) Hetero N/A -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000303 DNA SEQ-NG CEMIC - 17-may-2017 - BRCA1, BRCA2 8 Florencia Petracchi-CEMIC