NM_000263.4(NAGLU):c.1306T>C (p.Ser436Pro) AND Mucopolysaccharidosis, MPS-III-B
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 3, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001542299.1
Allele description [Variation Report for NM_000263.4(NAGLU):c.1306T>C (p.Ser436Pro)]
NM_000263.4(NAGLU):c.1306T>C (p.Ser436Pro)
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
-
uncharacterized protein [Arabidopsis thaliana]
uncharacterized protein [Arabidopsis thaliana]Gene ID:826801Gene
-
At.54287 AND (alive[prop]) (1)
Gene
-
putative CDP-glycerolpolyglycerol phosphate glycerol-phosphotransferase [Bacillu...
putative CDP-glycerolpolyglycerol phosphate glycerol-phosphotransferase [Bacillus licheniformis]gi|373248926|dbj|BAL45973.1|Protein
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023