chr22:29130412 G>A
Annotations
GeneCHEK2
TranscriptNM_007194.3
cDNAc.298C>T
Proteinp.Q100X
Functionstop gain
Localizationexon
hg19chr22:29130412 G>A
dbSNP
Synonyms
TranscriptcDNAProtein
NM_001005735.1c.298C>Tp.Q100X
NM_001349956.1c.298C>Tp.Q100X
NM_145862.2c.298C>Tp.Q100X
NM_001257387.1c.-480C>T
Frequency in gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––
HGMD
IDPhenotypeEffect
CM186385Breast cancer, high riskDM