Variant (rsID / SNP)

rs145873635

rs145873635 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASAH1. Location: chromosome 8, position 17,933,050. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ASAH1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:17933050
Cytoband: 8p22
HGVS: NM_177924.5(ASAH1):c.125C>T (p.Thr42Met)
Allele change: Missense_T42M

Associated conditions / phenotypes

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome|ASAH1-related disorders

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.