NM_000046.5(ARSB):c.635C>T (p.Thr212Ile) AND Mucopolysaccharidosis type 6
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 1, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000677581.1
Allele description [Variation Report for NM_000046.5(ARSB):c.635C>T (p.Thr212Ile)]
NM_000046.5(ARSB):c.635C>T (p.Thr212Ile)
Condition(s)
- Name:
- Mucopolysaccharidosis type 6 (MPS6)
- Synonyms:
- MPS VI; Mucopolysaccharidosis type VI; MPS 6; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009661; MedGen: C0026709; Orphanet: 583; OMIM: 253200
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Chromosome neighbors for GEO Profiles (Select 6137330) (29)
GEO Profiles
-
Gene Links for GEO Profiles (Select 6137330) (2)
Gene
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Last Updated: Aug 5, 2023