CSTB, cystatin B, 1476

N. diseases: 155; N. variants: 14
Disease: Unverricht-Lundborg Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147484110
rs147484110
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		G 0.700 CausalMutation CLINVAR Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations. 23205931 2012
dbSNP: rs147484110
rs147484110
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		G 0.700 CausalMutation CLINVAR Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients. 17003839 2007
dbSNP: rs147484110
rs147484110
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		G 0.700 CausalMutation CLINVAR G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene. 9360639 1997
dbSNP: rs147484110
rs147484110
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		G 0.700 CausalMutation CLINVAR Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) 8596935 1996