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chr22:29091121 C>CT

Annotations

GeneCHEK2
TranscriptNM_007194.3
cDNAc.1368dupA
Proteinp.E457fs
Functionframeshift ins
Localizationexon
hg19chr22:29091121 C>CT

Synonyms

TranscriptcDNAProtein
NM_001349956.1c.1167dupAp.E390fs
NM_145862.2c.1281dupAp.E428fs
NM_001005735.1c.1497dupAp.E500fs
NM_001257387.1c.705dupAp.E236fs

Frequency in gnomAD

GenomeExome
MAX0.0000449
AFR0
AMR0
ASJ0
EAS0
FIN0.00004485
NFE0.0000449
SAS0

ClinVar

IDPhenotypeEffect
RCV000160450.7Hereditary cancer-predisposing syndromePathogenic
RCV000722050.1CHEK2-Related Cancer SusceptibilityLikely pathogenic
RCV000473927.3Familial cancer of breastPathogenic/Likely pathogenic
RCV000212460.3not providedPathogenic

HGMD

IDPhenotypeEffect
CI1617634Breast cancerDM