NM_000046.5(ARSB):c.215T>C (p.Leu72Pro) AND Mucopolysaccharidosis type 6
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Oct 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000677515.6
Allele description [Variation Report for NM_000046.5(ARSB):c.215T>C (p.Leu72Pro)]
NM_000046.5(ARSB):c.215T>C (p.Leu72Pro)
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