Variant #0000006401 (NC_000013.11:g.32337163_32337166delACAA, BRCA2(NM_000059.3):c.2808_2811delACAA)

Individual ID 00000986
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.32337163_32337166delACAA
Reference -
DB-ID BRCA2_000035 See all 10 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Lina Nuñez-Private Practice
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     

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Co_ocurrence     

Review status     
BRCA2 NM_000059.3 +/+ 11 c.2808_2811delACAA r.(?) p.(Ala938Profs*21) Hetero N/A -



Screenings


AscendingScreening ID     

Template     

Technique     

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Variants found     

Owner     
0000001188 DNA SEQ CEMIC - 20-may-2019 Known familial mutation BRCA2 1 Lina Nuñez-Private Practice