NM_000263.4(NAGLU):c.1705C>T (p.Gln569Ter) AND Mucopolysaccharidosis, MPS-III-B
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 27, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000673658.1
Allele description [Variation Report for NM_000263.4(NAGLU):c.1705C>T (p.Gln569Ter)]
NM_000263.4(NAGLU):c.1705C>T (p.Gln569Ter)
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
-
nucleoporin Nup188 [Aedes albopictus]
nucleoporin Nup188 [Aedes albopictus]gi|2669901123|ref|XP_029722021.2|Protein
-
Medicinals - Neem
Medicinals - Neem
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Jun 23, 2024