NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter) AND Hurler syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 8, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000670523.1
Allele description [Variation Report for NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter)]
NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter)
Condition(s)
- Name:
- Hurler syndrome
- Synonyms:
- MUCOPOLYSACCHARIDOSIS TYPE IH; Gargoylism, Hurler Syndrome
- Identifiers:
- MONDO: MONDO:0011758; MedGen: C0086795; OMIM: 607014; Human Phenotype Ontology: HP:0000943
Assertion and evidence details
Last Updated: Feb 20, 2024