Variant (rsID / SNP)

rs143153487

rs143153487 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSTB. Location: chromosome 21, position 45,194,586. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CSTBConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 21:45194586
Cytoband: 21q22.3
HGVS: NM_000100.4(CSTB):c.121G>A (p.Val41Met)
Allele change: Missense_V41M

Associated conditions / phenotypes

Unverricht-Lundborg syndrome|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.