chr2:47639682 C>T

Основные

ГенMSH2

ТранскриптNM_000251.2

кДНКc.775C>T

Белокp.P259S

Функцияmissense

Локализацияexon

hg19chr2:47639682 C>T

NM_001258281.1c.577C>Tp.P193S

XR_001738747.1n.847C>T

XR_939685.1n.847C>T

MAX–0.000008959

AFR–0

AMR–0

ASJ–0

EAS–0

FIN–0

NFE–0.000008959

SAS–0

RCV000228319.3Hereditary nonpolyposis colon cancerVUS

RCV000235651.2not specifiedVUS

RCV000128997.5Hereditary cancer-predisposing syndromeVUS

CM117423Colorectal cancer, non-polyposisDM?