chr2:48030639 A>AC

Основные

ГенMSH6

ТранскриптNM_000179.2

кДНКc.3254dupC

Белокp.T1085fs

Функцияframeshift ins

Локализацияexon

hg19chr2:48030639 A>AC

NM_001281492.1c.2864dupCp.T955fs

NM_001281493.1c.2348dupCp.T783fs

NM_001281494.1c.2348dupCp.T783fs

MAX0.00010.00008114

AFR0.00010

AMR00.00002987

ASJ00

EAS00

FIN00.0000899

NFE00.00008114

SAS–0.00003259

RCV000074831.5Lynch syndromePathogenic

RCV000524166.2Hereditary nonpolyposis colon cancerPathogenic

RCV000115412.8Hereditary cancer-predisposing syndromePathogenic

RCV000410401.1Hereditary nonpolyposis colorectal cancer type 5Pathogenic

RCV000078312.6not providedPathogenic

CI972618Colorectal cancer, non-polyposisDM