NM_000527.5(LDLR):c.2022dup (p.Gly675fs) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001813913.1
Allele description [Variation Report for NM_000527.5(LDLR):c.2022dup (p.Gly675fs)]
NM_000527.5(LDLR):c.2022dup (p.Gly675fs)
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
-
RecName: Full=Transmembrane protein 212
RecName: Full=Transmembrane protein 212gi|190461808|sp|A6NML5.2|TM212_HUMAProtein
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023