chr22:29091797 G>C
Annotations
GeneCHEK2
TranscriptNM_007194.3
cDNAc.1160C>G
Proteinp.T387S
Functionmissense
Localizationexon
hg19chr22:29091797 G>C
dbSNPrs587780168
Synonyms
TranscriptcDNAProtein
NM_001005735.1c.1289C>Gp.T430S
NM_001257387.1c.497C>Gp.T166S
NM_145862.2c.1073C>Gp.T358S
NM_001349956.1c.959C>Gp.T320S
Frequency in gnomAD
GenomeExome
MAX0.0000666–
AFR0–
AMR0–
ASJ0–
EAS0–
FIN0–
NFE0.0000666–
SAS––
HGMD
IDPhenotypeEffect
CM1711152Colorectal cancer, susceptibility toDM?