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Variant (rsID / SNP)

rs121912502

LIPC

rs121912502 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIPC. Location: chromosome 15, position 58,840,586. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LIPCConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:58840586
Cytoband
15q21.3
HGVS
NM_000236.3(LIPC):c.866C>T (p.Ser289Phe)
Allele change
Missense_S289F

Associated conditions / phenotypes

Hyperlipidemia due to hepatic triglyceride lipase deficiency

Public references

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