chr22:29121230 C>T

Основные

ГенCHEK2

ТранскриптNM_007194.3

кДНКc.444+1G>A

Белок

Функцияsplicing

Локализацияsplice site

hg19chr22:29121230 C>T

NM_001257387.1c.-334+1G>A

NM_145862.2c.444+1G>A

NM_001005735.1c.573+1G>A

NM_001349956.1c.444+1G>A

MAX0.00020.0002

AFR00

AMR00

ASJ00

EAS00

FIN0.00030.0005

NFE0.00020.0002

SAS–0

RCV000116017.9Hereditary cancer-predisposing syndromePathogenic

RCV000196718.5Familial cancer of breastPathogenic/Likely pathogenic

RCV000212418.4not providedPathogenic

RCV000210090.1Breast and colorectal cancer, susceptibility toPathogenic

RCV000501923.1Breast cancer, susceptibility toPathogenic

CS030536Prostate cancerDM