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Variant (rsID / SNP)

rs268

LPL

rs268 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LPL. Location: chromosome 8, position 19,813,529. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LPLConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:19813529
Cytoband
8p21.3
HGVS
NM_000237.3(LPL):c.953A>G (p.Asn318Ser)
Allele change
Missense_N318S

Associated conditions / phenotypes

Hyperlipidemia, familial combined, LPL related|Hyperlipidemia, familial combined, susceptibility to|Hyperlipoproteinemia, type I

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.