Variant (rsID / SNP)

rs6383

rs6383 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSTB. Location: chromosome 21, position 45,194,643. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CSTBBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 21:45194643
Cytoband: 21q22.3
HGVS: NM_000100.4(CSTB):c.67-3T>C
Allele change: Silent

Associated conditions / phenotypes

Unverricht-Lundborg syndrome|Progressive myoclonic epilepsy|Seizure

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.