NM_000263.4(NAGLU):c.383+20C>A AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002140458.6
Allele description [Variation Report for NM_000263.4(NAGLU):c.383+20C>A]
NM_000263.4(NAGLU):c.383+20C>A
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
-
Taxonomy Links for GEO Profiles (Select 1013370) (1)
Taxonomy
-
3',5'-cyclic-AMP phosphodiesterase 4D isoform X2 [Homo sapiens]
3',5'-cyclic-AMP phosphodiesterase 4D isoform X2 [Homo sapiens]gi|2462602937|ref|XP_054208764.1|Protein
-
Nucleotide Links for Protein (Select 119612000) (2)
Nucleotide
-
OMIM Links for GEO Profiles (Select 59392175) (2)
OMIM
-
chromosome 1 open reading frame 186 [Homo sapiens]
chromosome 1 open reading frame 186 [Homo sapiens]gi|119612000|gb|EAW91594.1||gnl|WGS |hCP1627420Protein
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Last Updated: Sep 29, 2024