NM_000527.5(LDLR):c.1936del (p.Leu646fs) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Mar 25, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000237218.2
Allele description [Variation Report for NM_000527.5(LDLR):c.1936del (p.Leu646fs)]
NM_000527.5(LDLR):c.1936del (p.Leu646fs)
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
-
Alternative oxidase 1
Alternative oxidase 1gi|75099280|sp|O65000|O65000_CHLREProtein
-
membrane-bound transcription factor site-2 protease [Mus musculus]
membrane-bound transcription factor site-2 protease [Mus musculus]gi|26986629|ref|NP_758511.1|Protein
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Last Updated: Aug 5, 2023