Variant #0000005061 (NC_000013.11:g.32379251T>C, BRCA2(NM_000059.3):c.8755-66T>C)

Individual ID 00000631
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.32379251T>C
Reference -
DB-ID BRCA2_000005 See all 229 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Pablo Kalfayan-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 -/- 21i c.8755-66T>C r.(=) p.(=) Hetero no -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000728 DNA SEQ-NG CEMIC - 16-mar-2018 Specific pathology panel BRCA1, BRCA2 12 Pablo Kalfayan-CEMIC