NM_000527.4(LDLR):c.-117A>G AND Hypercholesterolemia, familial, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004013900.2
Allele description [Variation Report for NM_000527.4(LDLR):c.-117A>G]
NM_000527.4(LDLR):c.-117A>G
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
-
BP726717 Osada Taira anterior neuroectoderm (ANE) pCS105 cDNA library Xenopus la...
BP726717 Osada Taira anterior neuroectoderm (ANE) pCS105 cDNA library Xenopus laevis cDNA clone XL468g09ex 3', mRNA sequencegi|46075310|gnl|dbEST|24592450|dbj| 717.1|Nucleotide
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Last Updated: Aug 25, 2024