NM_000527.5(LDLR):c.790A>C (p.Met264Leu) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 11, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003998536.2
Allele description [Variation Report for NM_000527.5(LDLR):c.790A>C (p.Met264Leu)]
NM_000527.5(LDLR):c.790A>C (p.Met264Leu)
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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Mus musculus avian erythroblastosis virus E-26 (v-ets) oncogene related, mRNA (c...
Mus musculus avian erythroblastosis virus E-26 (v-ets) oncogene related, mRNA (cDNA clone MGC:178735 IMAGE:9053727), complete cdsgi|219518556|gb|BC145176.1|Nucleotide
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Homologene neighbors for GEO Profiles (Select 104083706) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 39253766) (197)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 39301722) (199)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 104073165) (20)
GEO Profiles
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Last Updated: Sep 1, 2024