Variant (rsID / SNP)

rs121965086

rs121965086 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIPA. Location: chromosome 10, position 90,984,925. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

LIPAPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:90984925
Cytoband: 10q23.31
HGVS: NM_000235.4(LIPA):c.599T>C (p.Leu200Pro)
Allele change: Missense_L200P

Associated conditions / phenotypes

Wolman disease|Lysosomal acid lipase deficiency

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.