Variant (rsID / SNP)

rs150268016

rs150268016 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASAH1. Location: chromosome 8, position 17,919,816. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ASAH1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:17919816
Cytoband: 8p22
HGVS: NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe)
Allele change: Missense_Y207F

Associated conditions / phenotypes

Farber lipogranulomatosis|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome|Farber lipogranulomatosis|Childhood epilepsy with centrotemporal spikes

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.