NM_000384.3(APOB):c.12536C>T (p.Thr4179Ile) AND multiple conditions
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001838015.13
Allele description
NM_000384.3(APOB):c.12536C>T (p.Thr4179Ile)
Condition(s)
- Name:
- Hypercholesterolemia, autosomal dominant, type B (FHCL2)
- Synonyms:
- APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE; APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE; HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007751; MedGen: C1704417; OMIM: 144010
-
[Candida] auris
[Candida] auris[Candida] auris Genome sequencingBioProject
-
BioProject Links for Nucleotide (Select 2058282527) (1)
BioProject
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024