chr3:37090075 T>C

Основные

ГенMLH1

ТранскриптNM_000249.3

кДНКc.1964T>C

Белокp.I655T

Функцияmissense

Локализацияexon

hg19chr3:37090075 T>C

dbSNPrs63751225

Синонимы

NM_001167619.2c.1241T>Cp.Ile414Thr

NM_001258273.1c.1241T>Cp.I414T

NM_001167617.2c.1670T>Cp.Ile557Thr

NM_001167618.2c.1241T>Cp.Ile414Thr

NM_001258274.2c.1241T>Cp.Ile414Thr

NM_001354615.1c.1241T>Cp.Ile414Thr

NM_001354616.1c.1241T>Cp.Ile414Thr

NM_001354617.1c.1241T>Cp.Ile414Thr

NM_001354618.1c.1241T>Cp.Ile414Thr

NM_001354619.1c.1241T>Cp.Ile414Thr

NM_001354620.1c.1670T>Cp.Ile557Thr

NM_001354621.1c.941T>Cp.Ile314Thr

NM_001354622.1c.941T>Cp.Ile314Thr

NM_001354623.1c.941T>Cp.Ile314Thr

NM_001354624.1c.890T>Cp.Ile297Thr

NM_001354625.1c.890T>Cp.Ile297Thr

NM_001354626.1c.890T>Cp.Ile297Thr

NM_001354627.1c.890T>Cp.Ile297Thr

NM_001354629.1c.1865T>Cp.Ile622Thr

NM_001354630.1c.1799T>Cp.Ile600Thr

NM_001258271.1c.1896+901T>C

NM_001354628.1c.1897-320T>C

Частота в gnomAD

MAX0.00030.0001

AFR00

AMR00

ASJ00

EAS00

FIN00.0001

NFE0.00030.0001

SAS–0

ClinVar

RCV000034544.1not providedVUS

RCV000524260.2Hereditary nonpolyposis colon cancerLikely benign

RCV000662533.1Lynch syndrome IIVUS

RCV000075441.3Lynch syndromeVUS

RCV000148623.1Colorectal cancer, non-polyposisVUS

RCV000128924.6Hereditary cancer-predisposing syndromeLikely benign

HGMD

CM963038Colorectal cancer, non-polyposisDM