NM_000263.4(NAGLU):c.180G>C (p.Pro60=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002087531.5
Allele description [Variation Report for NM_000263.4(NAGLU):c.180G>C (p.Pro60=)]
NM_000263.4(NAGLU):c.180G>C (p.Pro60=)
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
-
Concise Conserved Domain Links for Protein (Select 154697238) (2)
Conserved Domains
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Last Updated: Feb 28, 2024