NM_000237.3(LPL):c.687T>C (p.His229=) AND Hyperlipoproteinemia, type I
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001162186.6
Allele description [Variation Report for NM_000237.3(LPL):c.687T>C (p.His229=)]
NM_000237.3(LPL):c.687T>C (p.His229=)
Condition(s)
- Name:
- Hyperlipoproteinemia, type I
- Synonyms:
- HYPERLIPOPROTEINEMIA, TYPE IA; Lipase D deficiency; Hyperlipoproteinemia type 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009387; MedGen: C0023817; Orphanet: 444490; OMIM: 238600
Assertion and evidence details
Last Updated: Oct 13, 2024