Variant (rsID / SNP)
rs116928232
rs116928232 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIPA. Location: chromosome 10, position 90,982,268. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
LIPAPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:90982268
- Cytoband
- 10q23.31
- HGVS
- NM_000235.4(LIPA):c.894G>A (p.Gln298=)
- Allele change
- Synonymous_Q298Q
Associated conditions / phenotypes
Lysosomal acid lipase deficiency|LIPA-Related Disorders|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.