NM_000527.5(LDLR):c.1460_1462del (p.Asn487del) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 25, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000238057.3
Allele description [Variation Report for NM_000527.5(LDLR):c.1460_1462del (p.Asn487del)]
NM_000527.5(LDLR):c.1460_1462del (p.Asn487del)
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
-
sorting nexin-24 isoform X6 [Homo sapiens]
sorting nexin-24 isoform X6 [Homo sapiens]gi|1034644717|ref|XP_016864885.1|Protein
-
LOC127702536 [Mytilus californianus]
LOC127702536 [Mytilus californianus]Gene ID:127702536Gene
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Last Updated: Jun 23, 2024