chr22:29121016 G>A
Annotations
GeneCHEK2
TranscriptNM_007194.3
cDNAc.541C>T
Proteinp.R181C
Functionmissense
Localizationexon
hg19chr22:29121016 G>A
dbSNPrs137853010
Synonyms
TranscriptcDNAProtein
NM_145862.2c.541C>Tp.R181C
NM_001005735.1c.670C>Tp.R224C
NM_001257387.1c.-237C>T
NM_001349956.1c.445-105C>T
Frequency in gnomAD
GenomeExome
MAX0.00010.0005
AFR0.00010.00006537
AMR00.00008933
ASJ00
EAS00
FIN00
NFE0.000066680.00006269
SAS–0.0005
ClinVar
IDPhenotypeEffect
HGMD
IDPhenotypeEffect
CM030419Prostate cancerDM