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HomeVariants

chr2:48023196 G>T

Annotations

GeneMSH6
TranscriptNM_000179.2
cDNAc.621G>T
Proteinp.E207D
Functionmissense
Localizationexon
hg19chr2:48023196 G>T
dbSNP

Synonyms

TranscriptcDNAProtein
NM_001281494.1c.-282G>T
NM_001281492.1c.238-2554G>T
NM_001281493.1c.-279-2554G>T

Frequency in gnomAD

GenomeExome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS

ClinVar

IDPhenotypeEffect
RCV000580450.1Hereditary cancer-predisposing syndromeVUS
RCV000630054.1Hereditary nonpolyposis colon cancerVUS