NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) AND Mucopolysaccharidosis, MPS-III-A
- Germline classification:
- Pathogenic/Likely pathogenic (6 submissions)
- Last evaluated:
- Dec 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000665964.15
Allele description [Variation Report for NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)]
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)
Condition(s)
- Name:
- Mucopolysaccharidosis, MPS-III-A (MPS3A)
- Synonyms:
- SULFAMIDASE DEFICIENCY; Mucopoly-saccharidosis type 3A; Sanfilippo syndrome A; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009655; MedGen: C0086647; Orphanet: 581; Orphanet: 79269; OMIM: 252900
-
Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pol...
Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide [Homo sapiens]gi|68085278|gb|AAH72426.2|Protein
-
rps7 [Scorzonera radiata]
rps7 [Scorzonera radiata]Gene ID:89442240Gene
-
Conserved Domain Links for Structure (Select 69433) (1)
Conserved Domains
-
Homo sapiens creatine kinase, mitochondrial 1B, mRNA (cDNA clone MGC:149595 IMAG...
Homo sapiens creatine kinase, mitochondrial 1B, mRNA (cDNA clone MGC:149595 IMAGE:40116552), complete cdsgi|111309175|gb|BC121002.1|Nucleotide
-
neuroligin 4 X-linked a [Danio rerio]
neuroligin 4 X-linked a [Danio rerio]gi|261599014|ref|NP_001159803.1|Protein
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Last Updated: Oct 8, 2024