chr17:41234451 G>A

Annotations

GeneBRCA1

TranscriptNM_007294.3

cDNAc.4327C>T

Proteinp.R1443X

Functionstop gain

Localizationexon

hg19chr17:41234451 G>A

NM_007297.3c.4186C>Tp.R1396X

NM_007298.3c.1018C>Tp.R340X

NM_007299.3c.1018C>Tp.R340X

NM_007300.3c.4327C>Tp.R1443X

NR_027676.1n.4463C>T

MAX0.00010.00008935

AFR0.00010

AMR00.00008935

ASJ00

EAS00

FIN00.00004486

NFE00.00001792

SAS–0

RCV000235131.4not providedPathogenic

RCV000048523.11Hereditary breast and ovarian cancer syndromePathogenic

RCV000239083.1not specifiedPathogenic

RCV000019244.16Breast-ovarian cancer, familial 1Pathogenic

RCV000131880.4Hereditary cancer-predisposing syndromePathogenic

RCV000159989.2Familial cancer of breastPathogenic

CM940180Breast cancerDM