NM_000027.4(AGA):c.481C>T (p.Arg161Trp) AND Aspartylglucosaminuria
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002933573.2
Allele description [Variation Report for NM_000027.4(AGA):c.481C>T (p.Arg161Trp)]
NM_000027.4(AGA):c.481C>T (p.Arg161Trp)
Condition(s)
- Name:
- Aspartylglucosaminuria (AGU)
- Synonyms:
- GLYCOASPARAGINASE; Aspartylglycosaminuria; Aspartylglucos-aminuria; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008830; MedGen: C0268225; Orphanet: 93; OMIM: 208400; Human Phenotype Ontology: HP:0012068
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Homologene neighbors for GEO Profiles (Select 74209868) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 74212688) (200)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 74209868) (20)
GEO Profiles
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Preimplantation embryonic development (MOE430A)
Preimplantation embryonic development (MOE430A)Accession: GDS3958GEO DataSets
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Related DataSets for GEO Profiles (Select 74207693) (1)
GEO DataSets
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Last Updated: Sep 29, 2024