chr22:29121058 C>T

Annotations

GeneCHEK2

TranscriptNM_007194.3

cDNAc.499G>A

Proteinp.G167R

Functionmissense

Localizationexon

hg19chr22:29121058 C>T

NM_001005735.1c.628G>Ap.G210R

NM_145862.2c.499G>Ap.G167R

NM_001257387.1c.-279G>A

NM_001349956.1c.445-147G>A

MAX–0.00006497

AFR–0

AMR–0

ASJ–0

EAS–0

FIN–0

NFE–0.00004477

SAS–0.00006497

RCV000212424.6not providedConflicting interpretations of pathogenicity

RCV000131700.9Hereditary cancer-predisposing syndromeLikely pathogenic

RCV000210071.1Breast and colorectal cancer, susceptibility toLikely pathogenic

RCV000200030.5Familial cancer of breastVUS

CM030416Prostate cancerDM