chr22:29121015 C>T

Annotations

GeneCHEK2

TranscriptNM_007194.3

cDNAc.542G>A

Proteinp.R181H

Functionmissense

Localizationexon

hg19chr22:29121015 C>T

NM_001005735.1c.671G>Ap.R224H

NM_145862.2c.542G>Ap.R181H

NM_001257387.1c.-236G>A

NM_001349956.1c.445-104G>A

MAX0.00060.0014

AFR0.00010

AMR00.00002978

ASJ00

EAS0.00060.0014

FIN00

NFE00.00002686

SAS–0.0001

RCV000233960.4Familial cancer of breastVUS

RCV000129670.7Hereditary cancer-predisposing syndromeVUS

RCV000212428.3not specifiedVUS

RCV000114761.1not providedVUS

RCV000005946.6Prostate cancer, somaticPathogenic

CM030420Prostate cancerDM