Variant (rsID / SNP)

rs199565861

rs199565861 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASPA. Location: chromosome 17, position 3,385,087. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ASPAConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:3385087
Cytoband: 17p13.2
HGVS: NM_000049.4(ASPA):c.427A>T (p.Ile143Phe)
Allele change: Silent

Associated conditions / phenotypes

Spongy degeneration of central nervous system

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.