NM_000512.5(GALNS):c.245C>T (p.Ser82Leu) AND Mucopolysaccharidosis, MPS-IV-A
- Germline classification:
- Pathogenic/Likely pathogenic (5 submissions)
- Last evaluated:
- Mar 14, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001352891.24
Allele description [Variation Report for NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)]
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)
Condition(s)
- Name:
- Mucopolysaccharidosis, MPS-IV-A (MPS4A)
- Synonyms:
- MPS IVA; Morquio syndrome A; MPS 4A; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009659; MedGen: C0086651; Orphanet: 309297; Orphanet: 582; OMIM: 253000
Assertion and evidence details
Last Updated: Dec 7, 2024