chr22:29121019 G>A

Основные

ГенCHEK2

ТранскриптNM_007194.4

кДНКc.538C>T

Белокp.Arg180Cys

Функцияmissense

Локализацияexon

hg19chr22:29121019 G>A

NM_145862.2c.538C>Tp.R180C

NM_001005735.1c.667C>Tp.R223C

NM_001257387.1c.-240C>T

NM_001349956.1c.445-108C>T

XR_937805.2n.770C>T

XR_937806.2n.770C>T

XR_937807.2n.770C>T

MAX0.00120.0032

AFR0.00080.0005

AMR00.00005956

ASJ00.0002

EAS0.00120.0032

FIN00.0002

NFE0.00040.0013

SAS–0.0007

RCV000116024.8Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity

RCV001285090.1none providedVUS

RCV000490304.1Malignant tumor of prostateVUS

RCV001030689.1Hereditary breast and ovarian cancer syndromeVUS

RCV001149530.1CHEK2-Related Cancer SusceptibilityVUS

RCV000588124.6not providedConflicting interpretations of pathogenicity

RCV000196561.10Familial cancer of breastConflicting interpretations of pathogenicity

RCV000212426.5not specifiedVUS

CM030417Prostate cancerDM