Variant (rsID / SNP)

rs182603751

rs182603751 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIPC. Location: chromosome 15, position 58,834,027. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LIPCUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:58834027
Cytoband: 15q21.3
HGVS: NM_000236.3(LIPC):c.317C>T (p.Ala106Val)
Allele change: Missense_A106V

Associated conditions / phenotypes

Hyperlipidemia due to hepatic triglyceride 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.