Variant #0000004168 (NC_000013.11:g.32333270A>G, BRCA2(NM_000059.3):c.1792A>G)

Individual ID 00000531
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.32333270A>G
Reference -
DB-ID BRCA2_000135 See all 2 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Rita Valdez-Hospital Alemán
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     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Review status     
BRCA2 NM_000059.3 -/- 10 c.1792A>G r.(?) p.(Thr598Ala) Hetero no -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000599 DNA SEQ-NG Domeq&Lafage - 23-jan-2018 - BRCA1, BRCA2 5 Rita Valdez-Hospital Alemán