NM_000404.4(GLB1):c.34T>C (p.Leu12=) AND Mucopolysaccharidosis, MPS-IV-B
- Germline classification:
- Benign (3 submissions)
- Last evaluated:
- Aug 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000392270.9
Allele description [Variation Report for NM_000404.4(GLB1):c.34T>C (p.Leu12=)]
NM_000404.4(GLB1):c.34T>C (p.Leu12=)
Condition(s)
- Name:
- Mucopolysaccharidosis, MPS-IV-B (MPS4B)
- Synonyms:
- MPS IVB; Morquio syndrome B; MPS 4B; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009660; MedGen: C0086652; Orphanet: 582; OMIM: 253010
Assertion and evidence details
Last Updated: Sep 29, 2024