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chr3:37035032 C>T

Основные

ГенMLH1
ТранскриптNM_000249.3
кДНКc.-7C>T
Белок
Функция
Локализация5'UTR
hg19chr3:37035032 C>T

Синонимы

ТранскрипткДНКБелок
NM_001258273.1c.-639C>T
NM_001258271.1c.-7C>T
NM_001167617.2c.-523C>T
NM_001167618.2c.-952C>T
NM_001167619.2c.-865C>T
NM_001258274.2c.-1102C>T
NM_001354615.1c.-633C>T
NM_001354616.1c.-633C>T
NM_001354617.1c.-725C>T
NM_001354618.1c.-957C>T
NM_001354619.1c.-1081C>T
NM_001354620.1c.-291C>T
NM_001354621.1c.-1050C>T
NM_001354622.1c.-1163C>T
NM_001354623.1c.-1072C>T
NM_001354624.1c.-833C>T
NM_001354625.1c.-731C>T
NM_001354626.1c.-828C>T
NM_001354627.1c.-1060C>T
NM_001354628.1c.-7C>T
NM_001354629.1c.-7C>T
NM_001354630.1c.-7C>T

Частота в gnomAD

GenomeExome
MAX0.00040.0011
AFR00
AMR00.00008934
ASJ00
EAS00
FIN0.0080.008
NFE0.00040.0011
SAS0.00006497

ClinVar

IDФенотипЭффект
RCV000075068.2Lynch syndromeVUS
RCV000114845.1not providedVUS
RCV000115448.7not specifiedVUS

HGMD

IDФенотипЭффект
CR155779Colorectal cancer, non-polyposisDM