NM_000527.5(LDLR):c.2416G>C (p.Val806Leu) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004013647.2
Allele description [Variation Report for NM_000527.5(LDLR):c.2416G>C (p.Val806Leu)]
NM_000527.5(LDLR):c.2416G>C (p.Val806Leu)
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
-
Taxonomy Links for GEO Profiles (Select 119592871) (1)
Taxonomy
-
E3 ubiquitin-protein ligase MIB2 isoform X5 [Homo sapiens]
E3 ubiquitin-protein ligase MIB2 isoform X5 [Homo sapiens]gi|2462504286|ref|XP_054190490.1|Protein
-
PREDICTED: Homo sapiens CD207 molecule (CD207), transcript variant X3, mRNA
PREDICTED: Homo sapiens CD207 molecule (CD207), transcript variant X3, mRNAgi|2462573788|ref|XM_054342313.1|Nucleotide
-
E3 ubiquitin-protein ligase MIB2 isoform X14 [Homo sapiens]
E3 ubiquitin-protein ligase MIB2 isoform X14 [Homo sapiens]gi|2217264214|ref|XP_047302693.1|Protein
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Last Updated: May 7, 2024