chr17:41244145 G>A

Annotations

GeneBRCA1

TranscriptNM_007294.3

cDNAc.3403C>T

Proteinp.Q1135X

Functionstop gain

Localizationexon

hg19chr17:41244145 G>A

NM_007297.3c.3262C>Tp.Q1088X

NM_007300.3c.3403C>Tp.Q1135X

NM_007298.3c.788-1096C>T

NM_007299.3c.788-1096C>T

NR_027676.1n.3539C>T

MAX––

AFR––

AMR––

ASJ––

EAS––

FIN––

NFE––

SAS––

RCV000236027.2not providedPathogenic

RCV000077547.5Breast-ovarian cancer, familial 1Pathogenic

RCV000496327.1Hereditary breast and ovarian cancer syndromePathogenic

RCV000574138.2Hereditary cancer-predisposing syndromePathogenic

CM993638Breast cancerDM