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chr3:37061861 C>G

Annotations

GeneMLH1
TranscriptNM_000249.3
cDNAc.945C>G
Proteinp.H315Q
Functionmissense
Localizationexon
hg19chr3:37061861 C>G

Synonyms

TranscriptcDNAProtein
NM_001167619.2c.222C>Gp.His74Gln
NM_001258273.1c.222C>Gp.H74Q
NM_001167617.2c.651C>Gp.His217Gln
NM_001167618.2c.222C>Gp.His74Gln
NM_001258271.1c.945C>Gp.H315Q
NM_001258274.2c.222C>Gp.His74Gln
NM_001354615.1c.222C>Gp.His74Gln
NM_001354616.1c.222C>Gp.His74Gln
NM_001354617.1c.222C>Gp.His74Gln
NM_001354618.1c.222C>Gp.His74Gln
NM_001354619.1c.222C>Gp.His74Gln
NM_001354620.1c.651C>Gp.His217Gln
NM_001354628.1c.945C>Gp.His315Gln
NM_001354629.1c.846C>Gp.His282Gln
NM_001354630.1c.945C>Gp.His315Gln
NM_001354621.1c.-79C>G
NM_001354622.1c.-79C>G
NM_001354623.1c.-79C>G
NM_001354624.1c.-36-5267C>G
NM_001354625.1c.-36-5267C>G
NM_001354626.1c.-36-5267C>G
NM_001354627.1c.-36-5267C>G

Frequency in gnomAD

GenomeExome
MAX0.000066620.00003583
AFR00
AMR00
ASJ00
EAS00
FIN00
NFE0.000066620.00003583
SAS0

ClinVar

IDPhenotypeEffect
RCV000122978.7Lynch syndromeVUS
RCV000115488.3not providedVUS
RCV000568893.1Hereditary cancer-predisposing syndromeVUS
RCV000524323.2Hereditary nonpolyposis colon cancerVUS