NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000763532.11
Allele description [Variation Report for NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)]
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
Condition(s)
- Name:
- Mucopolysaccharidosis, MPS-I-S
- Synonyms:
- MUCOPOLYSACCHARIDOSIS TYPE IS; MPS V; MUCOPOLYSACCHARIDOSIS TYPE V; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011760; MedGen: C0026708; OMIM: 607016
-
LOC101529026 [Ochotona princeps]
LOC101529026 [Ochotona princeps]Gene ID:101529026Gene
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Last Updated: Oct 20, 2024