Variant #0000006034 (NC_000013.11:g.32370533dupT, BRCA2(NM_000059.3):c.8463dupT)

Individual ID 00000881
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.32370533dupT
Reference -
DB-ID BRCA2_000119 See all 8 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Cecilia Montes-IMGO
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 +/+ 19 c.8463dupT r.(?) p.(Ile2822Tyrfs*23) Hetero N/A -



Screenings


AscendingScreening ID     

Template     

Technique     

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Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001046 DNA SEQ Hospital Privado Centro Médico de Córdoba - 2-may-2018 Known familial mutation BRCA2 2 Cecilia Montes-IMGO