Variant: rs147484110 

    present in Gene: CSTB
    present in Chromosome: 21
    Position on Chromosome: 43774760
    Alleles of this Variant: C/G

rs147484110 in CSTB gene and Dysmorphic features PMID 26843564 2016 CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.

PMID 22154554 2012 Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.

PMID 23205931 2012 Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

PMID 17158032 2007 Long-term evolution of EEG in Unverricht-Lundborg disease.

PMID 18325013 2008 Clinical picture of EPM1-Unverricht-Lundborg disease.

PMID 28378817 2017 Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.

PMID 12058102 2002 Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and (1)H MRS study.

PMID 21757863 2011 Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.

rs147484110 in CSTB gene and Muscle hypotonia PMID 26843564 2016 CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.

PMID 12058102 2002 Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and (1)H MRS study.

PMID 23205931 2012 Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

PMID 28378817 2017 Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.

PMID 18325013 2008 Clinical picture of EPM1-Unverricht-Lundborg disease.

PMID 17158032 2007 Long-term evolution of EEG in Unverricht-Lundborg disease.

PMID 22154554 2012 Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.

PMID 21757863 2011 Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.

rs147484110 in CSTB gene and Myoclonic Epilepsies, Progressive PMID 9012407 1997 Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).

PMID 17003839 2007 Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.

PMID 23205931 2012 Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

PMID 8596935 1996 Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

PMID 9360639 1997 G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene.

PMID 9054946 1997 Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.

rs147484110 in CSTB gene and Unverricht-Lundborg Syndrome PMID 9360639 1997 G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene.

PMID 23205931 2012 Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

PMID 8596935 1996 Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

PMID 17003839 2007 Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.