Variant #0000008146 (NC_000013.11:g.32338162T>C, BRCA2(NM_000059.3):c.3807T>C)

Individual ID 00001455
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.32338162T>C
Reference -
DB-ID BRCA2_000001 See all 179 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Lina Nuñez-Hospital Alemán
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.3807T>C r.(=) p.(=) Hetero no -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001713 DNA SEQ-NG Domeq&Lafage - 28-feb-2020 Specific pathology BRCA1, BRCA2 3 Lina Nuñez-Hospital Alemán