NM_002076.4(GNS):c.*599T>A AND Mucopolysaccharidosis, MPS-III-D
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000351694.5
Allele description [Variation Report for NM_002076.4(GNS):c.*599T>A]
NM_002076.4(GNS):c.*599T>A
Condition(s)
- Name:
- Mucopolysaccharidosis, MPS-III-D (MPS3D)
- Synonyms:
- N-ACETYLGLUCOSAMINE-6-SULFATASE DEFICIENCY; MPS III D; Mucopoly-saccharidosis type 3D; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009658; MedGen: C0086650; Orphanet: 581; Orphanet: 79272; OMIM: 252940
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Synthetic construct Homo sapiens clone ccsbBroadEn_05510 LRRTM3 gene, encodes co...
Synthetic construct Homo sapiens clone ccsbBroadEn_05510 LRRTM3 gene, encodes complete proteingi|649116449|gb|KJ896116.1|Nucleotide
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Chain B, Glycogen accumulation regulator GarA
Chain B, Glycogen accumulation regulator GarAgi|1679884702|pdb|6I2R|BProtein
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GSPATT00018178001 [Paramecium tetraurelia]
GSPATT00018178001 [Paramecium tetraurelia]Gene ID:5037043Gene
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Last Updated: Dec 24, 2023