Variant (rsID / SNP)
rs147484110
rs147484110 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSTB. Location: chromosome 21, position 45,194,641. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CSTBConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:45194641
- Cytoband
- 21q22.3
- HGVS
- NM_000100.4(CSTB):c.67-1G>C
- Allele change
- Silent
Associated conditions / phenotypes
Unverricht-Lundborg syndrome|Inborn genetic diseases|Progressive myoclonic epilepsy|Chorea|Dyskinesia|Microcephaly|Encephalopathy|Cerebral dysmyelination
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.