NM_000263.4(NAGLU):c.1614G>A (p.Glu538=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003774977.2
Allele description [Variation Report for NM_000263.4(NAGLU):c.1614G>A (p.Glu538=)]
NM_000263.4(NAGLU):c.1614G>A (p.Glu538=)
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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Mus musculus zinc finger and BTB domain containing 43, mRNA (cDNA clone MGC:5804...
Mus musculus zinc finger and BTB domain containing 43, mRNA (cDNA clone MGC:58044 IMAGE:6408745), complete cdsgi|27695434|gb|BC043117.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024