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chr3:37090048 A>G

Основные

Ген MLH1
Транскрипт NM_000249.3
кДНК c.1937A>G
Белок p.Y646C
Функция missense
Локализация exon
hg19 chr3:37090048 A>G
dbSNP rs35045067

Синонимы

Транскрипт кДНК Белок
NM_001167619.2 c.1214A>G p.Tyr405Cys
NM_001258273.1 c.1214A>G p.Y405C
NM_001167617.2 c.1643A>G p.Tyr548Cys
NM_001167618.2 c.1214A>G p.Tyr405Cys
NM_001258274.2 c.1214A>G p.Tyr405Cys
NM_001354615.1 c.1214A>G p.Tyr405Cys
NM_001354616.1 c.1214A>G p.Tyr405Cys
NM_001354617.1 c.1214A>G p.Tyr405Cys
NM_001354618.1 c.1214A>G p.Tyr405Cys
NM_001354619.1 c.1214A>G p.Tyr405Cys
NM_001354620.1 c.1643A>G p.Tyr548Cys
NM_001354621.1 c.914A>G p.Tyr305Cys
NM_001354622.1 c.914A>G p.Tyr305Cys
NM_001354623.1 c.914A>G p.Tyr305Cys
NM_001354624.1 c.863A>G p.Tyr288Cys
NM_001354625.1 c.863A>G p.Tyr288Cys
NM_001354626.1 c.863A>G p.Tyr288Cys
NM_001354627.1 c.863A>G p.Tyr288Cys
NM_001354629.1 c.1838A>G p.Tyr613Cys
NM_001354630.1 c.1772A>G p.Tyr591Cys
NM_001258271.1 c.1896+874A>G
NM_001354628.1 c.1897-347A>G

Частота в gnomAD

Genome Exome
MAX 0.0001 0.00008068
AFR 0.0001 0
AMR 0 0.00002978
ASJ 0 0
EAS 0 0.00005798
FIN 0 0
NFE 0 0.00008068
SAS 0

ClinVar

ID Фенотип Эффект
RCV000030218.5 Lynch syndrome VUS
RCV000587551.1 not provided VUS
RCV000212545.2 not specified VUS
RCV000524258.2 Hereditary nonpolyposis colon cancer VUS
RCV000131964.7 Hereditary cancer-predisposing syndrome VUS
RCV000662690.1 Lynch syndrome II VUS

HGMD

ID Фенотип Эффект
CM022426 Colorectal cancer, non-polyposis DM