NM_000527.5(LDLR):c.1010_1013dup (p.Cys338Ter) AND Familial type 3 hyperlipoproteinemia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 7, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001269386.2
Allele description [Variation Report for NM_000527.5(LDLR):c.1010_1013dup (p.Cys338Ter)]
NM_000527.5(LDLR):c.1010_1013dup (p.Cys338Ter)
Condition(s)
- Name:
- Familial type 3 hyperlipoproteinemia
- Synonyms:
- Hyperlipoproteinemia type 3; Hyperlipoproteinemia type III; Dysbetalipoproteinemia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018473; MedGen: C0020479; OMIM: 617347
-
GK [Gracilinanus agilis]
GK [Gracilinanus agilis]Gene ID:123241609Gene
-
ELOVL3 [Taeniopygia guttata]
ELOVL3 [Taeniopygia guttata]Gene ID:115495846Gene
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024