Log in
EnglishРусскийEnglish
VariantsStatisticsMethodsGuidelinesContactsAbout
HomeVariants

chr3:37090048 A>G

Annotations

GeneMLH1
TranscriptNM_000249.3
cDNAc.1937A>G
Proteinp.Y646C
Functionmissense
Localizationexon
hg19chr3:37090048 A>G
dbSNPrs35045067

Synonyms

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

Frequency in gnomAD

GenomeExome
MAX0.00010.00008068
AFR0.00010
AMR00.00002978
ASJ00
EAS00.00005798
FIN00
NFE00.00008068
SAS–0

ClinVar

IDPhenotypeEffect
RCV000030218.5Lynch syndromeVUS
RCV000587551.1not providedVUS
RCV000212545.2not specifiedVUS
RCV000524258.2Hereditary nonpolyposis colon cancerVUS
RCV000131964.7Hereditary cancer-predisposing syndromeVUS
RCV000662690.1Lynch syndrome IIVUS

HGMD

IDPhenotypeEffect
CM022426Colorectal cancer, non-polyposisDM