chr2:48026090 C>G
Annotations
GeneMSH6
TranscriptNM_000179.2
cDNAc.968C>G
Proteinp.T323S
Functionmissense
Localizationexon
hg19chr2:48026090 C>G
dbSNP
Synonyms
TranscriptcDNAProtein
NM_001281492.1c.578C>Gp.T193S
NM_001281493.1c.62C>Gp.T21S
NM_001281494.1c.62C>Gp.T21S
Frequency in gnomAD
GenomeExome
MAX–0.00003249
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0
SAS–0.00003249
ClinVar
IDPhenotypeEffect