NM_000527.5(LDLR):c.682G>A (p.Glu228Lys) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000735406.4
Allele description [Variation Report for NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)]
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
Condition(s)
- Name:
- Aortic dissection
- Identifiers:
- MedGen: C0340643; Human Phenotype Ontology: HP:0002647
- Name:
- Carotid artery dissection
- Identifiers:
- MONDO: MONDO:0004763; MedGen: C0338585; Human Phenotype Ontology: HP:0012158
- Name:
- Internal carotid artery dissection
- Identifiers:
- MedGen: C0751815; Human Phenotype Ontology: HP:0012159
- Name:
- Carotid artery occlusion
- Identifiers:
- MONDO: MONDO:0004450; MedGen: C0265101; Human Phenotype Ontology: HP:0012474
- Name:
- Stroke disorder
- Synonyms:
- Stroke
- Identifiers:
- MONDO: MONDO:0005098; MeSH: D020521; MedGen: C0038454; Human Phenotype Ontology: HP:0001297
Assertion and evidence details
Last Updated: Oct 20, 2024