chr2:48027278 C>T
Annotations
GeneMSH6
TranscriptNM_000179.2
cDNAc.2156C>T
Proteinp.T719I
Functionmissense
Localizationexon
hg19chr2:48027278 C>T
dbSNPrs373418713
Synonyms
TranscriptcDNAProtein
NM_001281492.1c.1766C>Tp.T589I
NM_001281493.1c.1250C>Tp.T417I
NM_001281494.1c.1250C>Tp.T417I
Frequency in gnomAD
GenomeExome
MAX0.000066630.000008997
AFR00
AMR00
ASJ00
EAS00
FIN00
NFE0.000066630.000008997
SAS–0
ClinVar
IDPhenotypeEffect