Variant (rsID / SNP)
rs118204057
rs118204057 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LPL. Location: chromosome 8, position 19,811,733. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
LPLConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:19811733
- Cytoband
- 8p21.3
- HGVS
- NM_000237.3(LPL):c.644G>A (p.Gly215Glu)
- Allele change
- Missense_G215E
Associated conditions / phenotypes
Hyperlipoproteinemia, type I|Hyperlipidemia, familial combined, LPL related|Hyperlipoproteinemia, type I|Hyperlipidemia, familial combined, LPL related
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.