Variant (rsID / SNP)
rs2297472
rs2297472 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIPA. Location: chromosome 10, position 90,984,990. Clinical significance in the table: Benign.
Reference-table entries
LIPABenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:90984990
- Cytoband
- 10q23.31
- HGVS
- NM_000235.4(LIPA):c.539-5C>T
- Allele change
- Silent
Associated conditions / phenotypes
Wolman disease|Lysosomal acid lipase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.