chr17:41215969 C>T

Основные

ГенBRCA1

ТранскриптNM_007294.3

кДНКc.5075-1G>A

Белок

Функцияsplicing

Локализацияsplice site

hg19chr17:41215969 C>T

NM_007300.3c.5138-1G>A

NM_007297.3c.4934-1G>A

NM_007299.3c.1763-1G>A

NM_007298.3c.1763-1G>A

NR_027676.1n.5211-1G>A

MAX––

AFR––

AMR––

ASJ––

EAS––

FIN––

NFE––

SAS––

RCV000579615.1Hereditary cancer-predisposing syndromeLikely pathogenic

RCV000496384.1Hereditary breast and ovarian cancer syndromePathogenic

RCV000585700.1Familial cancer of breastPathogenic

RCV000504600.1Neoplasm of the breastPathogenic

RCV000112485.3Breast-ovarian cancer, familial 1Likely pathogenic

RCV000480623.1not providedPathogenic

CS023200Breast and/or ovarian cancerDM