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chr3:37090075 T>C

Основные

Ген MLH1
Транскрипт NM_000249.3
кДНК c.1964T>C
Белок p.I655T
Функция missense
Локализация exon
hg19 chr3:37090075 T>C
dbSNP rs63751225

Синонимы

Транскрипт кДНК Белок
NM_001167619.2 c.1241T>C p.Ile414Thr
NM_001258273.1 c.1241T>C p.I414T
NM_001167617.2 c.1670T>C p.Ile557Thr
NM_001167618.2 c.1241T>C p.Ile414Thr
NM_001258274.2 c.1241T>C p.Ile414Thr
NM_001354615.1 c.1241T>C p.Ile414Thr
NM_001354616.1 c.1241T>C p.Ile414Thr
NM_001354617.1 c.1241T>C p.Ile414Thr
NM_001354618.1 c.1241T>C p.Ile414Thr
NM_001354619.1 c.1241T>C p.Ile414Thr
NM_001354620.1 c.1670T>C p.Ile557Thr
NM_001354621.1 c.941T>C p.Ile314Thr
NM_001354622.1 c.941T>C p.Ile314Thr
NM_001354623.1 c.941T>C p.Ile314Thr
NM_001354624.1 c.890T>C p.Ile297Thr
NM_001354625.1 c.890T>C p.Ile297Thr
NM_001354626.1 c.890T>C p.Ile297Thr
NM_001354627.1 c.890T>C p.Ile297Thr
NM_001354629.1 c.1865T>C p.Ile622Thr
NM_001354630.1 c.1799T>C p.Ile600Thr
NM_001258271.1 c.1896+901T>C
NM_001354628.1 c.1897-320T>C

Частота в gnomAD

Genome Exome
MAX 0.0003 0.0001
AFR 0 0
AMR 0 0
ASJ 0 0
EAS 0 0
FIN 0 0.0001
NFE 0.0003 0.0001
SAS 0

ClinVar

ID Фенотип Эффект
RCV000034544.1 not provided VUS
RCV000524260.2 Hereditary nonpolyposis colon cancer Likely benign
RCV000662533.1 Lynch syndrome II VUS
RCV000075441.3 Lynch syndrome VUS
RCV000148623.1 Colorectal cancer, non-polyposis VUS
RCV000128924.6 Hereditary cancer-predisposing syndrome Likely benign

HGMD

ID Фенотип Эффект
CM963038 Colorectal cancer, non-polyposis DM