chr2:48033775 C>T
Annotations
GeneMSH6
TranscriptNM_000179.2
cDNAc.3986C>T
Proteinp.S1329L
Functionmissense
Localizationexon
hg19chr2:48033775 C>T
dbSNPrs199594809
Synonyms
TranscriptcDNAProtein
NM_001281492.1c.3596C>Tp.S1199L
NM_001281493.1c.3080C>Tp.S1027L
NM_001281494.1c.3080C>Tp.S1027L
Frequency in gnomAD
GenomeExome
MAX0.00010.0001
AFR00
AMR00
ASJ00
EAS00
FIN00
NFE0.00010.0001
SAS–0
ClinVar
IDPhenotypeEffect