NM_000527.5(LDLR):c.1138G>A (p.Glu380Lys) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Oct 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002491540.3
Allele description [Variation Report for NM_000527.5(LDLR):c.1138G>A (p.Glu380Lys)]
NM_000527.5(LDLR):c.1138G>A (p.Glu380Lys)
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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Polygala lutea voucher FLAS:Abbott 24570 tRNA-Leu (trnL) gene, introngi|268321710|gb|GQ889161.1|Nucleotide
-
PREDICTED: Chelonia mydas polypeptide N-acetylgalactosaminyltransferase 9 (GALNT...
PREDICTED: Chelonia mydas polypeptide N-acetylgalactosaminyltransferase 9 (GALNT9), transcript variant X4, mRNAgi|2092200932|ref|XM_043529608.1|Nucleotide
-
DC025020 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus lae...
DC025020 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus laevis cDNA clone rxlk72d09ex 3', mRNA sequencegi|118984130|gnl|dbEST|43284653|dbj 5020.1|Nucleotide
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Last Updated: Sep 1, 2024