chr3:37090048 A>G

Основные

ГенMLH1

ТранскриптNM_000249.3

кДНКc.1937A>G

Белокp.Y646C

Функцияmissense

Локализацияexon

hg19chr3:37090048 A>G

dbSNPrs35045067

Синонимы

NM_001167619.2c.1214A>Gp.Tyr405Cys

NM_001258273.1c.1214A>Gp.Y405C

NM_001167617.2c.1643A>Gp.Tyr548Cys

NM_001167618.2c.1214A>Gp.Tyr405Cys

NM_001258274.2c.1214A>Gp.Tyr405Cys

NM_001354615.1c.1214A>Gp.Tyr405Cys

NM_001354616.1c.1214A>Gp.Tyr405Cys

NM_001354617.1c.1214A>Gp.Tyr405Cys

NM_001354618.1c.1214A>Gp.Tyr405Cys

NM_001354619.1c.1214A>Gp.Tyr405Cys

NM_001354620.1c.1643A>Gp.Tyr548Cys

NM_001354621.1c.914A>Gp.Tyr305Cys

NM_001354622.1c.914A>Gp.Tyr305Cys

NM_001354623.1c.914A>Gp.Tyr305Cys

NM_001354624.1c.863A>Gp.Tyr288Cys

NM_001354625.1c.863A>Gp.Tyr288Cys

NM_001354626.1c.863A>Gp.Tyr288Cys

NM_001354627.1c.863A>Gp.Tyr288Cys

NM_001354629.1c.1838A>Gp.Tyr613Cys

NM_001354630.1c.1772A>Gp.Tyr591Cys

NM_001258271.1c.1896+874A>G

NM_001354628.1c.1897-347A>G

Частота в gnomAD

MAX0.00010.00008068

AFR0.00010

AMR00.00002978

ASJ00

EAS00.00005798

FIN00

NFE00.00008068

SAS–0

ClinVar

RCV000030218.5Lynch syndromeVUS

RCV000587551.1not providedVUS

RCV000212545.2not specifiedVUS

RCV000524258.2Hereditary nonpolyposis colon cancerVUS

RCV000131964.7Hereditary cancer-predisposing syndromeVUS

RCV000662690.1Lynch syndrome IIVUS

HGMD

CM022426Colorectal cancer, non-polyposisDM