Variant (rsID / SNP)
rs118204068
rs118204068 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LPL. Location: chromosome 8, position 19,813,405. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
LPLPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:19813405
- Cytoband
- 8p21.3
- HGVS
- NM_000237.3(LPL):c.829G>A (p.Asp277Asn)
- Allele change
- Missense_D277N
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.