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chr13:32890556 CAG>C

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAr.spl
Protein
Functionsplicing
Localizationsplice site
hg19chr13:32890556 CAG>C

Frequency in gnomAD

GenomeExome
MAX0.0001
AFR0
AMR0
ASJ0
EAS0.0001
FIN0
NFE0
SAS0

ClinVar

IDPhenotypeEffect
RCV000478133.1not providedLikely pathogenic

HGMD

IDPhenotypeEffect
CD161633Breast cancerDM