NM_000263.4(NAGLU):c.1773del (p.Leu591_Leu592insTer) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 21, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001888331.4
Allele description [Variation Report for NM_000263.4(NAGLU):c.1773del (p.Leu591_Leu592insTer)]
NM_000263.4(NAGLU):c.1773del (p.Leu591_Leu592insTer)
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
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JGI_CAAJ13671.fwd NIH_XGC_tropBrn2 Xenopus tropicalis cDNA clone IMAGE:7643700 5...
JGI_CAAJ13671.fwd NIH_XGC_tropBrn2 Xenopus tropicalis cDNA clone IMAGE:7643700 5', mRNA sequencegi|58353746|gnl|dbEST|27491334|gb|C 17.1|Nucleotide
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marine metagenome
marine metagenomeThe reconstruction of metagenome-assembled genomes from the Saanich Inlet seawaterBioProject
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BioProject Links for Nucleotide (Select 2047431040) (1)
BioProject
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024