chr2:48033370 C>T
Annotations
GeneMSH6
TranscriptNM_000179.2
cDNAc.3674C>T
Proteinp.T1225M
Functionmissense
Localizationexon
hg19chr2:48033370 C>T
dbSNPrs63750370
Synonyms
TranscriptcDNAProtein
NM_001281492.1c.3284C>Tp.T1095M
NM_001281493.1c.2768C>Tp.T923M
NM_001281494.1c.2768C>Tp.T923M
Frequency in gnomAD
GenomeExome
MAX0.00020.0001
AFR00
AMR00
ASJ00
EAS00.00005799
FIN00.00004486
NFE0.00020.0001
SAS–0.00009746
ClinVar
IDPhenotypeEffect