chr17:41215890 C>A

Основные

ГенBRCA1

ТранскриптNM_007294.3

кДНКc.5152+1G>T

Белок

Функцияsplicing

Локализацияsplice site

hg19chr17:41215890 C>A

NM_007300.3c.5215+1G>T

NM_007297.3c.5011+1G>T

NM_007299.3c.1840+1G>T

NM_007298.3c.1840+1G>T

NR_027676.1n.5288+1G>T

MAX––

AFR––

AMR––

ASJ––

EAS––

FIN––

NFE––

SAS––

RCV000048820.3Hereditary breast and ovarian cancer syndromePathogenic

RCV000112516.2Breast-ovarian cancer, familial 1Pathogenic

CS951359Breast cancerDM