NM_000203.5(IDUA):c.1349C>A (p.Pro450His) AND Mucopolysaccharidosis type 1
- Germline classification:
- Uncertain significance (4 submissions)
- Last evaluated:
- Nov 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001152716.8
Allele description [Variation Report for NM_000203.5(IDUA):c.1349C>A (p.Pro450His)]
NM_000203.5(IDUA):c.1349C>A (p.Pro450His)
Condition(s)
- Name:
- Mucopolysaccharidosis type 1
- Synonyms:
- Mucopolysaccharidosis type I; MPS 1; Attenuated MPS I (subtype); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0001586; MedGen: C0023786
Assertion and evidence details
Last Updated: Sep 29, 2024