NM_000263.4(NAGLU):c.1914C>T (p.Tyr638=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001434962.7
Allele description [Variation Report for NM_000263.4(NAGLU):c.1914C>T (p.Tyr638=)]
NM_000263.4(NAGLU):c.1914C>T (p.Tyr638=)
Condition(s)
- Name:
- Mucopolysaccharidosis, MPS-III-B (MPS3B)
- Synonyms:
- NAGLU DEFICIENCY; Mucopoly-saccharidosis type 3B; Sanfilippo syndrome B; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009656; MedGen: C0086648; OMIM: 252920
Assertion and evidence details
Last Updated: Oct 13, 2024