Variant (rsID / SNP)
rs118204072
rs118204072 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LPL. Location: chromosome 8, position 19,811,685. Clinical significance in the table: Pathogenic.
Reference-table entries
LPLPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:19811685
- Cytoband
- 8p21.3
- HGVS
- NM_000237.3(LPL):c.596C>G (p.Ser199Cys)
- Allele change
- Missense_S199C
Associated conditions / phenotypes
Hyperlipoproteinemia, type I
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.