chr2:48027625 C>G
Annotations
GeneMSH6
TranscriptNM_000179.2
cDNAc.2503C>G
Proteinp.Q835E
Functionmissense
Localizationexon
hg19chr2:48027625 C>G
dbSNPrs63751321
Synonyms
TranscriptcDNAProtein
NM_001281492.1c.2113C>Gp.Q705E
NM_001281493.1c.1597C>Gp.Q533E
NM_001281494.1c.1597C>Gp.Q533E
Frequency in gnomAD
GenomeExome
MAX–0.00005826
AFR–0
AMR–0
ASJ–0
EAS–0.00005826
FIN–0
NFE–0
SAS–0
ClinVar
IDPhenotypeEffect