chr17:41243584 T>A

Annotations

GeneBRCA1

TranscriptNM_007294.3

cDNAc.3964A>T

Proteinp.K1322X

Functionstop gain

Localizationexon

hg19chr17:41243584 T>A

NM_007297.3c.3823A>Tp.K1275X

NM_007300.3c.3964A>Tp.K1322X

NM_007298.3c.788-535A>T

NM_007299.3c.788-535A>T

NR_027676.1n.4100A>T

MAX––

AFR––

AMR––

ASJ––

EAS––

FIN––

NFE––

SAS––

RCV000590774.1Hereditary breast and ovarian cancer syndromeLikely pathogenic

RCV000112218.2Breast-ovarian cancer, familial 1Pathogenic

RCV000563165.1Hereditary cancer-predisposing syndromePathogenic