NM_000527.5(LDLR):c.1706-21_1706-19del AND Hypercholesterolemia, familial, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 18, 2011
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000030129.2
Allele description [Variation Report for NM_000527.5(LDLR):c.1706-21_1706-19del]
NM_000527.5(LDLR):c.1706-21_1706-19del
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
-
Platr26 pluripotency associated transcript 26 [Mus musculus]
Platr26 pluripotency associated transcript 26 [Mus musculus]Gene ID:381371Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024