NM_000046.5(ARSB):c.1052C>T (p.Ser351Phe) AND Mucopolysaccharidosis type 6
- Germline classification:
- Likely pathogenic (3 submissions)
- Last evaluated:
- Mar 28, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000677443.5
Allele description [Variation Report for NM_000046.5(ARSB):c.1052C>T (p.Ser351Phe)]
NM_000046.5(ARSB):c.1052C>T (p.Ser351Phe)
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
Assertion and evidence details
Last Updated: Jun 17, 2024