NM_000027.4(AGA):c.806+20G>A AND Aspartylglucosaminuria
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003066972.3
Allele description [Variation Report for NM_000027.4(AGA):c.806+20G>A]
NM_000027.4(AGA):c.806+20G>A
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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E3 ubiquitin-protein ligase COP1 isoform 2 [Mus musculus]
E3 ubiquitin-protein ligase COP1 isoform 2 [Mus musculus]gi|1344169016|ref|NP_001347807.1|Protein
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Homologene neighbors for GEO Profiles (Select 10350252) (0)
GEO Profiles
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Homologene neighbors for GEO Profiles (Select 62726531) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 62727903) (200)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 64944574) (200)
GEO Profiles
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Last Updated: Sep 29, 2024