NM_000046.5(ARSB):c.916_917del (p.Leu306fs) AND Mucopolysaccharidosis type 6
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003494842.2
Allele description [Variation Report for NM_000046.5(ARSB):c.916_917del (p.Leu306fs)]
NM_000046.5(ARSB):c.916_917del (p.Leu306fs)
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: Sep 29, 2024