NM_000263.4(NAGLU):c.1675G>T (p.Asp559Tyr) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003781491.2
Allele description [Variation Report for NM_000263.4(NAGLU):c.1675G>T (p.Asp559Tyr)]
NM_000263.4(NAGLU):c.1675G>T (p.Asp559Tyr)
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
-
protein aim19 [Schizosaccharomyces pombe]
protein aim19 [Schizosaccharomyces pombe]gi|19112376|ref|NP_595584.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024