chr17:41215920 G>A

Annotations

GeneBRCA1

TranscriptNM_007294.4

cDNAc.5123C>T

Proteinp.Ala1708Val

Functionmissense

Localizationexon

hg19chr17:41215920 G>A

NM_007297.3c.4982C>Tp.A1661V

NM_007298.3c.1811C>Tp.A604V

NM_007299.3c.1811C>Tp.A604V

NM_007300.4c.5186C>Tp.Ala1729Val

NR_027676.1n.5259C>T

MAX0.00010.0004

AFR0.00010.0004

AMR00

ASJ00

EAS00

FIN00

NFE00

SAS–0

RCV000148393.1Breast and/or ovarian cancerVUS

RCV000131166.9Hereditary cancer-predisposing syndromeVUS

RCV000031221.6Breast-ovarian cancerVUS

RCV000212194.5not specifiedVUS

RCV000048803.13Hereditary breast and ovarian cancer syndromeVUS

RCV000589633.3not providedVUS

RCV000761087.1CraniopharyngiomaVUS

CM065004Breast and/or ovarian cancerDM