chr22:29130389 A>T

Основные

ГенCHEK2

ТранскриптNM_007194.3

кДНКc.319+2T>A

Белок

Функцияsplicing

Локализацияsplice site

hg19chr22:29130389 A>T

NM_001257387.1UTR5

NM_145862.2c.319+2T>A

NM_001005735.1c.319+2T>A

NM_001349956.1c.319+2T>A

MAX0.00060.00004484

AFR00

AMR00

ASJ00

EAS00

FIN0.00090.0006

NFE0.00060.00004484

SAS–0

RCV000131434.9Hereditary cancer-predisposing syndromeLikely pathogenic

RCV000545158.2Familial cancer of breastLikely pathogenic

RCV000515447.1Likely pathogenic

RCV000212411.2not providedLikely pathogenic

CS1617635Breast cancerDM