NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) AND Mucopolysaccharidosis, MPS-II
- Germline classification:
- Pathogenic (8 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:
- RCV000180473.24
Allele description [Variation Report for NM_000202.8(IDS):c.1403G>A (p.Arg468Gln)]
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln)
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
-
Homologene neighbors for GEO Profiles (Select 7116184) (0)
GEO Profiles
-
Gene Links for GEO Profiles (Select 7118060) (1)
Gene
-
NCOA1 nuclear receptor coactivator 1 [Homo sapiens]
NCOA1 nuclear receptor coactivator 1 [Homo sapiens]Gene ID:8648Gene
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Last Updated: Sep 29, 2024