NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr) AND Mucopolysaccharidosis, MPS-II
- Germline classification:
- Pathogenic/Likely pathogenic (3 submissions)
- Last evaluated:
- Jun 7, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000811810.11
Allele description [Variation Report for NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr)]
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr)
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
Assertion and evidence details
Last Updated: Sep 29, 2024