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chr3:37061923 G>A

Annotations

GeneMLH1
TranscriptNM_000249.3
cDNAc.1007G>A
Proteinp.G336D
Functionmissense
Localizationexon
hg19chr3:37061923 G>A
dbSNPrs587781750

Synonyms

TranscriptcDNAProtein
NM_001167619.2c.284G>Ap.Gly95Asp
NM_001258273.1c.284G>Ap.G95D
NM_001167617.2c.713G>Ap.Gly238Asp
NM_001167618.2c.284G>Ap.Gly95Asp
NM_001258271.1c.1007G>Ap.G336D
NM_001258274.2c.284G>Ap.Gly95Asp
NM_001354615.1c.284G>Ap.Gly95Asp
NM_001354616.1c.284G>Ap.Gly95Asp
NM_001354617.1c.284G>Ap.Gly95Asp
NM_001354618.1c.284G>Ap.Gly95Asp
NM_001354619.1c.284G>Ap.Gly95Asp
NM_001354620.1c.713G>Ap.Gly238Asp
NM_001354628.1c.1007G>Ap.Gly336Asp
NM_001354629.1c.908G>Ap.Gly303Asp
NM_001354630.1c.1007G>Ap.Gly336Asp
NM_001354621.1c.-17G>A
NM_001354622.1c.-17G>A
NM_001354623.1c.-17G>A
NM_001354624.1c.-36-5205G>A
NM_001354625.1c.-36-5205G>A
NM_001354626.1c.-36-5205G>A
NM_001354627.1c.-36-5205G>A

Frequency in gnomAD

GenomeExome
MAX–0.00002689
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.00002689
SAS–0

ClinVar

IDPhenotypeEffect
RCV000411750.1Lynch syndrome IIVUS
RCV000129956.5Hereditary cancer-predisposing syndromeVUS
RCV000196459.5Hereditary nonpolyposis colon cancerVUS

HGMD

IDPhenotypeEffect
CM184503Lynch syndromeDM?