NM_000199.5(SGSH):c.736A>G (p.Met246Val) AND Mucopolysaccharidosis, MPS-III-A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002632645.2
Allele description [Variation Report for NM_000199.5(SGSH):c.736A>G (p.Met246Val)]
NM_000199.5(SGSH):c.736A>G (p.Met246Val)
Condition(s)
- Name:
- Mucopolysaccharidosis, MPS-III-A (MPS3A)
- Synonyms:
- SULFAMIDASE DEFICIENCY; Mucopoly-saccharidosis type 3A; Sanfilippo syndrome A; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009655; MedGen: C0086647; Orphanet: 581; Orphanet: 79269; OMIM: 252900
Assertion and evidence details
Last Updated: Sep 29, 2024