chr2:48026360 G>A
Annotations
GeneMSH6
TranscriptNM_000179.2
cDNAc.1238G>A
Proteinp.W413X
Functionstop gain
Localizationexon
hg19chr2:48026360 G>A
dbSNPrs786201049
Synonyms
TranscriptcDNAProtein
NM_001281492.1c.848G>Ap.W283X
NM_001281493.1c.332G>Ap.W111X
NM_001281494.1c.332G>Ap.W111X
Frequency in gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––
ClinVar
IDPhenotypeEffect