NM_000384.3(APOB):c.13567C>T (p.Leu4523=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002889704.2
Allele description [Variation Report for NM_000384.3(APOB):c.13567C>T (p.Leu4523=)]
NM_000384.3(APOB):c.13567C>T (p.Leu4523=)
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
Assertion and evidence details
Last Updated: Apr 6, 2024