chr17:41226347 C>T

Основные

ГенBRCA1

ТранскриптNM_007294.3

кДНКc.4675+1G>A

Белок

Функцияsplicing

Локализацияsplice site

hg19chr17:41226347 C>T

NM_007300.3c.4738+1G>A

NM_007297.3c.4534+1G>A

NM_007299.3c.1363+1G>A

NM_007298.3c.1363+1G>A

NR_027676.1n.4811+1G>A

MAX––

AFR––

AMR––

ASJ––

EAS––

FIN––

NFE––

SAS––

RCV000414441.1Neoplasm of the breastPathogenic

RCV000131822.4Hereditary cancer-predisposing syndromePathogenic

RCV000077582.4Breast-ovarian cancer, familial 1Pathogenic

RCV000225764.3Hereditary breast and ovarian cancer syndromePathogenic

RCV000048623.6not providedPathogenic

CS031769Breast cancerDM