Variant (rsID / SNP)

rs118204077

rs118204077 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LPL. Location: chromosome 8, position 19,813,384. Clinical significance in the table: Pathogenic.

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Reference-table entries

LPLPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:19813384
Cytoband: 8p21.3
HGVS: NM_000237.3(LPL):c.808C>T (p.Arg270Cys)
Allele change: Missense_R270C

Associated conditions / phenotypes

Hyperlipoproteinemia, type I

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.