NM_000527.4(LDLR):c.1469G>T (p.Trp490Leu) AND Familial hypercholesterolemia 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 20, 2012
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000211612.1
Allele description
NM_000527.4(LDLR):c.1469G>T (p.Trp490Leu)
Condition(s)
- Name:
- Familial hypercholesterolemia 1 (FHCL1)
- Synonyms:
- LDL RECEPTOR DISORDER; Hyperlipoproteinemia Type IIa; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007750; MedGen: C0745103; Orphanet: 391665; OMIM: 143890
Assertion and evidence details
Last Updated: Jun 25, 2020