chr2:48026015 G>A
Annotations
GeneMSH6
TranscriptNM_000179.2
cDNAc.893G>A
Proteinp.R298Q
Functionmissense
Localizationexon
hg19chr2:48026015 G>A
dbSNPrs765237563
Synonyms
TranscriptcDNAProtein
NM_001281492.1c.503G>Ap.R168Q
NM_001281493.1c.-14G>A
NM_001281494.1c.-14G>A
Frequency in gnomAD
GenomeExome
MAX–0.00002979
AFR–0
AMR–0.00002979
ASJ–0
EAS–0
FIN–0
NFE–0.00002689
SAS–0
ClinVar
IDPhenotypeEffect