chr2:48026421 T>G
Annotations
GeneMSH6
TranscriptNM_000179.2
cDNAc.1299T>G
Proteinp.Y433X
Functionstop gain
Localizationexon
hg19chr2:48026421 T>G
dbSNP
Synonyms
TranscriptcDNAProtein
NM_001281492.1c.909T>Gp.Y303X
NM_001281493.1c.393T>Gp.Y131X
NM_001281494.1c.393T>Gp.Y131X
Frequency in gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––
ClinVar
IDPhenotypeEffect