NM_000027.4(AGA):c.84C>T (p.Pro28=) AND Aspartylglucosaminuria
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002097538.6
Allele description [Variation Report for NM_000027.4(AGA):c.84C>T (p.Pro28=)]
NM_000027.4(AGA):c.84C>T (p.Pro28=)
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
Assertion and evidence details
Last Updated: Sep 29, 2024