chr2:48027413 C>A

Основные

ГенMSH6

ТранскриптNM_000179.2

кДНКc.2291C>A

Белокp.T764N

Функцияmissense

Локализацияexon

hg19chr2:48027413 C>A

NM_001281492.1c.1901C>Ap.T634N

NM_001281493.1c.1385C>Ap.T462N

NM_001281494.1c.1385C>Ap.T462N

MAX0.00010.00009746

AFR0.00010

AMR00

ASJ00

EAS00

FIN00

NFE00.00000898

SAS–0.00009746

RCV000163700.4Hereditary cancer-predisposing syndromeVUS

RCV000480884.1not providedVUS

RCV000662379.1Hereditary nonpolyposis colorectal cancer type 5VUS

RCV000630065.1Hereditary nonpolyposis colon cancerVUS

CM057195Colorectal cancer, non-polyposisDM