NM_000046.5(ARSB):c.523T>G (p.Tyr175Asp) 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:
- RCV000677574.1
Allele description [Variation Report for NM_000046.5(ARSB):c.523T>G (p.Tyr175Asp)]
NM_000046.5(ARSB):c.523T>G (p.Tyr175Asp)
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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sporulation protein; co-activator (with SpoIIR) for triggering SpoIIGA-dependent...
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Last Updated: Aug 5, 2023