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HomeVariants

chr22:29099503 CAATAT>C

Annotations

GeneCHEK2
TranscriptNM_007194.3
cDNAc.893_897del
Proteinp.Y298fs
Functionframeshift del
Localizationexon
hg19chr22:29099503 CAATAT>C
dbSNP

Synonyms

TranscriptcDNAProtein
NM_001349956.1c.692_696delp.Y231fs
NM_145862.2c.893_897delp.Y298fs
NM_001005735.1c.1022_1026delp.Y341fs
NM_001257387.1c.230_234delp.Y77fs

Frequency in gnomAD

GenomeExome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS

ClinVar

IDPhenotypeEffect
RCV000582748.1Hereditary cancer-predisposing syndromePathogenic