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chr3:37067410 G>A

Основные

ГенMLH1
ТранскриптNM_000249.3
кДНКc.1321G>A
Белокp.A441T
Функцияmissense
Локализацияexon
hg19chr3:37067410 G>A
dbSNPrs63750365

Синонимы

ТранскрипткДНКБелок
NM_001167619.2c.598G>Ap.Ala200Thr
NM_001258273.1c.598G>Ap.A200T
NM_001167617.2c.1027G>Ap.Ala343Thr
NM_001167618.2c.598G>Ap.Ala200Thr
NM_001258271.1c.1321G>Ap.A441T
NM_001258274.2c.598G>Ap.Ala200Thr
NM_001354615.1c.598G>Ap.Ala200Thr
NM_001354616.1c.598G>Ap.Ala200Thr
NM_001354617.1c.598G>Ap.Ala200Thr
NM_001354618.1c.598G>Ap.Ala200Thr
NM_001354619.1c.598G>Ap.Ala200Thr
NM_001354620.1c.1027G>Ap.Ala343Thr
NM_001354621.1c.298G>Ap.Ala100Thr
NM_001354622.1c.298G>Ap.Ala100Thr
NM_001354623.1c.298G>Ap.Ala100Thr
NM_001354624.1c.247G>Ap.Ala83Thr
NM_001354625.1c.247G>Ap.Ala83Thr
NM_001354626.1c.247G>Ap.Ala83Thr
NM_001354627.1c.247G>Ap.Ala83Thr
NM_001354628.1c.1321G>Ap.Ala441Thr
NM_001354629.1c.1222G>Ap.Ala408Thr
NM_001354630.1c.1321G>Ap.Ala441Thr

Частота в gnomAD

GenomeExome
MAX0.00160.0005
AFR00
AMR00.00002978
ASJ00.0009
EAS00
FIN0.00030.0004
NFE0.00160.0005
SAS–0.00006497

ClinVar

IDФенотипЭффект
RCV000148618.1Colorectal cancer, non-polyposisVUS
RCV000202064.5not specifiedConflicting interpretations of pathogenicity
RCV000524232.2Hereditary nonpolyposis colon cancerBenign
RCV000075170.5Lynch syndromeBenign
RCV000144611.1Lynch syndrome IBenign
RCV000115456.7Hereditary cancer-predisposing syndromeBenign

HGMD

IDФенотипЭффект
CM970965Colorectal cancer, non-polyposisDM?