Variant (rsID / SNP)

rs6083

rs6083 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIPC. Location: chromosome 15, position 58,838,010. Clinical significance in the table: Benign.

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Reference-table entries

LIPCBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:58838010
Cytoband: 15q21.3
HGVS: NM_000236.3(LIPC):c.644A>G (p.Asn215Ser)
Allele change: Missense_N215S

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.