NM_000527.5(LDLR):c.940+1dup AND Hypercholesterolemia, familial, 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 16, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000417274.2
Allele description [Variation Report for NM_000527.5(LDLR):c.940+1dup]
NM_000527.5(LDLR):c.940+1dup
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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Choeradoplana 28S ribosomal RNA gene, partial sequence.
Choeradoplana 28S ribosomal RNA gene, partial sequence.PopSet: 1387707818PopSet
-
Homo sapiens chromosome 8, clone XXfos-800816B5, complete sequence
Homo sapiens chromosome 8, clone XXfos-800816B5, complete sequencegi|30270670|gnl|WIBR|L29514|gb|AC14 2|Nucleotide
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BJ045299 NIBB Mochii normalized Xenopus neurula library Xenopus laevis cDNA clon...
BJ045299 NIBB Mochii normalized Xenopus neurula library Xenopus laevis cDNA clone XL003l15 3', mRNA sequencegi|17420052|gnl|dbEST|10506326|dbj| 299.1|Nucleotide
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Last Updated: Jun 23, 2024