NM_000527.5(LDLR):c.1571_1572del (p.Val524fs) 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:
- RCV000417352.2
Allele description [Variation Report for NM_000527.5(LDLR):c.1571_1572del (p.Val524fs)]
NM_000527.5(LDLR):c.1571_1572del (p.Val524fs)
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
-
Adams-Oliver syndrome 4
Adams-Oliver syndrome 4MedGen
-
C3809092[conceptid] (1)
MedGen
-
Fam90a1b family with sequence similarity 90, member A1B [Mus musculus]
Fam90a1b family with sequence similarity 90, member A1B [Mus musculus]Gene ID:631145Gene
-
Mixture/Component Compounds for PubChem Compound (Select 25021832... (2)
Mixture/Component Compounds for PubChem Compound (Select 25021832)SearchPubChem Compound
-
BioAssay by Target (List) for Gene (Select 254158) (12)
PubChem BioAssay
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024