NM_000527.5(LDLR):c.1470G>C (p.Trp490Cys) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 3, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002227556.2
Allele description [Variation Report for NM_000527.5(LDLR):c.1470G>C (p.Trp490Cys)]
NM_000527.5(LDLR):c.1470G>C (p.Trp490Cys)
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
-
Drosophila melanogaster Ubiquitin-specific protease 12/46 (Usp12-46), mRNA
Drosophila melanogaster Ubiquitin-specific protease 12/46 (Usp12-46), mRNAgi|665394813|ref|NM_142842.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024