Variant (rsID / SNP)
rs780495201
rs780495201 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIPA. Location: chromosome 10, position 90,984,929. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
LIPAPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Duplication
- Chromosome / position
- 10:90984929
- Cytoband
- 10q23.31
- HGVS
- NM_000235.4(LIPA):c.594dup (p.Ala199fs)
Associated conditions / phenotypes
Lysosomal acid lipase deficiency|Wolman disease|Cholesteryl ester storage disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.