NM_000202.8(IDS):c.702C>T (p.Tyr234=) AND Mucopolysaccharidosis, MPS-II
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002606325.2
Allele description [Variation Report for NM_000202.8(IDS):c.702C>T (p.Tyr234=)]
NM_000202.8(IDS):c.702C>T (p.Tyr234=)
Condition(s)
- Name:
- Mucopolysaccharidosis, MPS-II (MPS2)
- Synonyms:
- Mucopolysaccharidosis type II; Attenuated MPS (subtype; formerly known as mild MPS II); Severe MPS II; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010674; MedGen: C0026705; Orphanet: 580; OMIM: 309900
-
BioProjects for Gene (Select 126863025) (4)
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Last Updated: Feb 28, 2024