CHEK2, checkpoint kinase 2, 11200

N. diseases: 47; N. variants: 223
Disease: Li-Fraumeni Syndrome 2 ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853007
rs137853007
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1836482
Disease:
Li-Fraumeni Syndrome 2 		0.800 GeneticVariation UNIPROT Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. 11719428 2001
dbSNP: rs137853007
rs137853007
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1836482
Disease:
Li-Fraumeni Syndrome 2 		A 0.800 CausalMutation CLINVAR