NM_000527.5(LDLR):c.*994C>T AND Hypercholesterolemia, familial, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000313295.5
Allele description [Variation Report for NM_000527.5(LDLR):c.*994C>T]
NM_000527.5(LDLR):c.*994C>T
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
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FAM219A family with sequence similarity 219 member A [Homo sapiens]
FAM219A family with sequence similarity 219 member A [Homo sapiens]Gene ID:203259Gene
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Gene Links for GEO Profiles (Select 111509404) (1)
Gene
-
Gene Links for GEO Profiles (Select 111515440) (1)
Gene
-
MYORG myogenesis regulating glycosidase [Homo sapiens]
MYORG myogenesis regulating glycosidase [Homo sapiens]Gene ID:57462Gene
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Related DataSets for GEO Profiles (Select 111509048) (1)
GEO DataSets
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Last Updated: Dec 24, 2023