Variant (rsID / SNP)

rs74315442

rs74315442 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSTB. Location: chromosome 21, position 45,194,178. Clinical significance in the table: Pathogenic.

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Reference-table entries

CSTBPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 21:45194178
Cytoband: 21q22.3
HGVS: NM_000100.4(CSTB):c.202C>T (p.Arg68Ter)
Allele change: Nonsense_R68X

Associated conditions / phenotypes

Unverricht-Lundborg syndrome|8 conditions|Childhood epilepsy with centrotemporal spikes|Progressive myoclonic epilepsy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.