chr17:41245630 G>A

Annotations

GeneBRCA1

TranscriptNM_007294.3

cDNAc.1918C>T

Proteinp.Q640X

Functionstop gain

Localizationexon

hg19chr17:41245630 G>A

NM_007297.3c.1777C>Tp.Q593X

NM_007300.3c.1918C>Tp.Q640X

NM_007298.3c.787+1131C>T

NM_007299.3c.787+1131C>T

NR_027676.1n.2054C>T

MAX––

AFR––

AMR––

ASJ––

EAS––

FIN––

NFE––

SAS––

RCV000256851.2Breast-ovarian cancer, familial 1Pathogenic

CM148959Breast and/or ovarian cancerDM