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chr3:37090075 T>C

Annotations

GeneMLH1
TranscriptNM_000249.3
cDNAc.1964T>C
Proteinp.I655T
Functionmissense
Localizationexon
hg19chr3:37090075 T>C
dbSNPrs63751225

Synonyms

TranscriptcDNAProtein
NM_001167619.2c.1241T>Cp.Ile414Thr
NM_001258273.1c.1241T>Cp.I414T
NM_001167617.2c.1670T>Cp.Ile557Thr
NM_001167618.2c.1241T>Cp.Ile414Thr
NM_001258274.2c.1241T>Cp.Ile414Thr
NM_001354615.1c.1241T>Cp.Ile414Thr
NM_001354616.1c.1241T>Cp.Ile414Thr
NM_001354617.1c.1241T>Cp.Ile414Thr
NM_001354618.1c.1241T>Cp.Ile414Thr
NM_001354619.1c.1241T>Cp.Ile414Thr
NM_001354620.1c.1670T>Cp.Ile557Thr
NM_001354621.1c.941T>Cp.Ile314Thr
NM_001354622.1c.941T>Cp.Ile314Thr
NM_001354623.1c.941T>Cp.Ile314Thr
NM_001354624.1c.890T>Cp.Ile297Thr
NM_001354625.1c.890T>Cp.Ile297Thr
NM_001354626.1c.890T>Cp.Ile297Thr
NM_001354627.1c.890T>Cp.Ile297Thr
NM_001354629.1c.1865T>Cp.Ile622Thr
NM_001354630.1c.1799T>Cp.Ile600Thr
NM_001258271.1c.1896+901T>C
NM_001354628.1c.1897-320T>C

Frequency in gnomAD

GenomeExome
MAX0.00030.0001
AFR00
AMR00
ASJ00
EAS00
FIN00.0001
NFE0.00030.0001
SAS–0

ClinVar

IDPhenotypeEffect
RCV000034544.1not providedVUS
RCV000524260.2Hereditary nonpolyposis colon cancerLikely benign
RCV000662533.1Lynch syndrome IIVUS
RCV000075441.3Lynch syndromeVUS
RCV000148623.1Colorectal cancer, non-polyposisVUS
RCV000128924.6Hereditary cancer-predisposing syndromeLikely benign

HGMD

IDPhenotypeEffect
CM963038Colorectal cancer, non-polyposisDM