NM_000237.3(LPL):c.386_389del (p.Lys129fs) AND Hyperlipidemia, familial combined, LPL related
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003991301.2
Allele description [Variation Report for NM_000237.3(LPL):c.386_389del (p.Lys129fs)]
NM_000237.3(LPL):c.386_389del (p.Lys129fs)
Condition(s)
- Name:
- Hyperlipidemia, familial combined, LPL related (FCHL3)
- Synonyms:
- Hyperlipidemia, familial combined; Hyperapobetalipoproteinemia
- Identifiers:
- MONDO: MONDO:0007759; MedGen: C0020474; OMIM: 144250; Human Phenotype Ontology: HP:0008158
Assertion and evidence details
Last Updated: Jun 2, 2024