Variant #0000006362 (NC_000013.11:g.32379440C>T, BRCA2(NM_000059.3):c.8878C>T)

Individual ID 00000956
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.32379440C>T
Reference -
DB-ID BRCA2_000110 See all 3 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvina Sisterna-Hospital de Comunidad
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 +/+ 22 c.8878C>T r.(?) p.(Gln2960*) Hetero N/A -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001153 DNA CNVs;SEQ-NG IACA - 15-aug-2018 Specific pathology BRCA1, BRCA2 14 Silvina Sisterna-Hospital de Comunidad