Variant (rsID / SNP)

rs118204060

rs118204060 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LPL. Location: chromosome 8, position 19,811,790. Clinical significance in the table: Pathogenic.

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Reference-table entries

LPLPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:19811790
Cytoband: 8p21.3
HGVS: NM_000237.3(LPL):c.701C>T (p.Pro234Leu)
Allele change: Missense_P234L

Associated conditions / phenotypes

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

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.