NM_000501.4(ELN):c.1621C>T (p.Arg541Ter) AND Supravalvar aortic stenosis
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Nov 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000018207.29
Allele description [Variation Report for NM_000501.4(ELN):c.1621C>T (p.Arg541Ter)]
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter)
Condition(s)
- Name:
- Supravalvar aortic stenosis (SVAS)
- Synonyms:
- Supravalvar aortic stenosis, Eisenberg type
- Identifiers:
- MONDO: MONDO:0008504; MedGen: C0003499; Orphanet: 3193; OMIM: 185500; Human Phenotype Ontology: HP:0004381
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Last Updated: Jun 9, 2024