chr22:29091121 C>CT

Annotations

GeneCHEK2

TranscriptNM_007194.3

cDNAc.1368dupA

Proteinp.E457fs

Functionframeshift ins

Localizationexon

hg19chr22:29091121 C>CT

NM_001349956.1c.1167dupAp.E390fs

NM_145862.2c.1281dupAp.E428fs

NM_001005735.1c.1497dupAp.E500fs

NM_001257387.1c.705dupAp.E236fs

MAX–0.0000449

AFR–0

AMR–0

ASJ–0

EAS–0

FIN–0.00004485

NFE–0.0000449

SAS–0

RCV000160450.7Hereditary cancer-predisposing syndromePathogenic

RCV000722050.1CHEK2-Related Cancer SusceptibilityLikely pathogenic

RCV000473927.3Familial cancer of breastPathogenic/Likely pathogenic

RCV000212460.3not providedPathogenic

CI1617634Breast cancerDM