chr17:41258472 C>T

Основные

ГенBRCA1

ТранскриптNM_007294.3

кДНКc.212+1G>A

Белок

Функцияsplicing

Локализацияsplice site

hg19chr17:41258472 C>T

NM_007300.3c.212+1G>A

NM_007297.3c.71+1G>A

NM_007299.3c.212+1G>A

NM_007298.3c.212+1G>A

NR_027676.1n.351+23G>A

MAX–0.00002996

AFR–0

AMR–0.00002996

ASJ–0

EAS–0

FIN–0

NFE–0

SAS–0

RCV000031027.6Breast-ovarian cancer, familial 1Pathogenic

RCV000509688.2Hereditary cancer-predisposing syndromePathogenic

RCV000505828.1not providedPathogenic

RCV000496861.1Hereditary breast and ovarian cancer syndromePathogenic

CS951355Breast cancerDM