Variant (rsID / SNP)

rs1051339

rs1051339 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIPA. Location: chromosome 10, position 91,007,339. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

LIPABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:91007339
Cytoband: 10q23.31
HGVS: NM_000235.4(LIPA):c.67G>A (p.Gly23Arg)
Allele change: Missense_G23R

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.