Variant (rsID / SNP)

rs116827211

rs116827211 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIPA. Location: chromosome 10, position 90,974,672. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LIPAConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:90974672
Cytoband: 10q23.31
HGVS: NM_000235.4(LIPA):c.1113A>G (p.Glu371=)
Allele change: Synonymous_E371E

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.