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chr22:29121016 G>A

Annotations

GeneCHEK2
TranscriptNM_007194.3
cDNAc.541C>T
Proteinp.R181C
Functionmissense
Localizationexon
hg19chr22:29121016 G>A

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
SAS0.0005

ClinVar

IDPhenotypeEffect
RCV000196466.5Familial cancer of breastVUS
RCV000164479.3Hereditary cancer-predisposing syndromeVUS
RCV000216866.3not providedVUS
RCV000005945.6Prostate cancer, somaticPathogenic

HGMD

IDPhenotypeEffect
CM030419Prostate cancerDM