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chr3:37067410 G>A

Основные

Ген MLH1
Транскрипт NM_000249.3
кДНК c.1321G>A
Белок p.A441T
Функция missense
Локализация exon
hg19 chr3:37067410 G>A
dbSNP rs63750365

Синонимы

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

Частота в gnomAD

Genome Exome
MAX 0.0016 0.0005
AFR 0 0
AMR 0 0.00002978
ASJ 0 0.0009
EAS 0 0
FIN 0.0003 0.0004
NFE 0.0016 0.0005
SAS 0.00006497

ClinVar

ID Фенотип Эффект
RCV000148618.1 Colorectal cancer, non-polyposis VUS
RCV000202064.5 not specified Conflicting interpretations of pathogenicity
RCV000524232.2 Hereditary nonpolyposis colon cancer Benign
RCV000075170.5 Lynch syndrome Benign
RCV000144611.1 Lynch syndrome I Benign
RCV000115456.7 Hereditary cancer-predisposing syndrome Benign

HGMD

ID Фенотип Эффект
CM970965 Colorectal cancer, non-polyposis DM?