chr17:41245210 G>A

Annotations

GeneBRCA1

TranscriptNM_007294.3

cDNAc.2338C>T

Proteinp.Q780X

Functionstop gain

Localizationexon

hg19chr17:41245210 G>A

NM_007297.3c.2197C>Tp.Q733X

NM_007300.3c.2338C>Tp.Q780X

NM_007298.3c.787+1551C>T

NM_007299.3c.787+1551C>T

NR_027676.1n.2474C>T

MAX–0.000008996

AFR–0

AMR–0

ASJ–0

EAS–0

FIN–0

NFE–0.000008996

SAS–0

RCV000162854.4Hereditary cancer-predisposing syndromePathogenic

RCV000047805.7Hereditary breast and ovarian cancer syndromePathogenic

RCV000077515.9Breast-ovarian cancer, familial 1Pathogenic

RCV000414114.2not providedPathogenic

CM950146Breast cancerDM