Variant (rsID / SNP)

rs201486601

rs201486601 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDYN. Location: chromosome 20, position 1,961,100. Clinical significance in the table: Pathogenic.

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Reference-table entries

PDYNPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:1961100
Cytoband: 20p13
HGVS: NM_024411.5(PDYN):c.634C>T (p.Arg212Trp)
Allele change: Silent

Associated conditions / phenotypes

Spinocerebellar ataxia type 23

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.