chr2:48026603 C>T
Annotations
GeneMSH6
TranscriptNM_000179.2
cDNAc.1481C>T
Proteinp.A494V
Functionmissense
Localizationexon
hg19chr2:48026603 C>T
dbSNP
Synonyms
TranscriptcDNAProtein
NM_001281492.1c.1091C>Tp.A364V
NM_001281493.1c.575C>Tp.A192V
NM_001281494.1c.575C>Tp.A192V
Frequency in gnomAD
GenomeExome
MAX–0.00003249
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0
SAS–0.00003249
ClinVar
IDPhenotypeEffect