NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Likely pathogenic (5 submissions)
- Last evaluated:
- Aug 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000211590.13
Allele description [Variation Report for NM_000527.5(LDLR):c.1955T>C (p.Met652Thr)]
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr)
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: Aug 11, 2024