Variant (rsID / SNP)

rs76299136

rs76299136 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDE8B. Location: chromosome 5, position 76,621,399. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PDE8BBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:76621399
Cytoband: 5q13.3
HGVS: NM_003719.5(PDE8B):c.435C>T (p.Ser145=)
Allele change: Synonymous_S43S

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.