chr22:29121087 A>G

Annotations

GeneCHEK2

TranscriptNM_007194.3

cDNAc.470T>C

Proteinp.I157T

Functionmissense

Localizationexon

hg19chr22:29121087 A>G

NM_145862.2c.470T>Cp.I157T

NM_001005735.1c.599T>Cp.I200T

NM_001349956.1c.444+144T>C

NM_001257387.1c.-308T>C

MAX0.01610.004

AFR00.0001

AMR00.00005956

ASJ00.0012

EAS00

FIN0.02640.025

NFE0.01610.004

SAS–0.00003249

RCV000210131.1Breast and colorectal cancer, susceptibility toLikely pathogenic

RCV000144596.6Familial cancer of breastPathogenic/Likely pathogenic

RCV000212410.6not providedConflicting interpretations of pathogenicity

RCV000499814.1Breast cancer, susceptibility toPathogenic

RCV000116018.10Hereditary cancer-predisposing syndromePathogenic

RCV000005936.2Li-Fraumeni syndrome 2Pathogenic

RCV000005937.2Colorectal cancer, susceptibility toRisk factor

RCV000120555.1not specifiedVUS

RCV000005938.2Cancer of multiple tRisk factor

CM993368Li-Fraumeni syndrome, increased riskDFP