chr22:29095900 T>C
Annotations
GeneCHEK2
TranscriptNM_007194.3
cDNAc.934A>G
Proteinp.K312E
Functionmissense
Localizationexon
hg19chr22:29095900 T>C
dbSNPrs1064795532
Synonyms
TranscriptcDNAProtein
NM_001349956.1c.733A>Gp.K245E
NM_145862.2c.934A>Gp.K312E
NM_001005735.1c.1063A>Gp.K355E
NM_001257387.1c.271A>Gp.K91E
Frequency in gnomAD
GenomeExome
MAX–0.00005958
AFR–0
AMR–0.00005958
ASJ–0
EAS–0
FIN–0
NFE–0
SAS–0
ClinVar
IDPhenotypeEffect