chr13:32910804 T>G

Annotations

GeneBRCA2

TranscriptNM_000059.3

cDNAc.2312T>G

Proteinp.L771X

Functionstop gain

Localizationexon

hg19chr13:32910804 T>G

MAX0.00006666–

AFR0–

AMR0–

ASJ0–

EAS0–

FIN0–

NFE0.00006666–

SAS––

RCV000657630.1not providedPathogenic

RCV000241179.2Breast-ovarian cancer, familial 2Pathogenic

RCV000130606.4Hereditary cancer-predisposing syndromePathogenic

RCV000496732.1Hereditary breast and ovarian cancer syndromePathogenic

CM148277Breast cancerDM