Variant (rsID / SNP)

rs1997794

rs1997794 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDYN. Location: chromosome 20, position 1,974,858. Clinical significance in the table: Benign.

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Reference-table entries

PDYNBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:1974858
Cytoband: 20p13
HGVS: NM_024411.4(PDYN):c.-381A>G
Allele change: Silent

Associated conditions / phenotypes

Autosomal dominant cerebellar ataxia

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.