Variant (rsID / SNP)

rs115599001

rs115599001 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDE8B. Location: chromosome 5, position 76,607,841. Clinical significance in the table: Benign.

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Reference-table entries

PDE8BBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:76607841
Cytoband: 5q13.3
HGVS: NM_003719.5(PDE8B):c.362G>A (p.Arg121His)
Allele change: Missense_R19H

Associated conditions / phenotypes

Autosomal dominant striatal neurodegeneration type 1

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.