NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Likely pathogenic (4 submissions)
- Last evaluated:
- Aug 19, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000211622.9
Allele description [Variation Report for NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr)]
NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr)
Condition(s)
- Name:
- Hypercholesterolemia, familial, 1
- 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: May 7, 2024