NM_000027.4(AGA):c.127+25C>T AND Aspartylglucosaminuria
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jul 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001543708.2
Allele description [Variation Report for NM_000027.4(AGA):c.127+25C>T]
NM_000027.4(AGA):c.127+25C>T
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: Dec 24, 2023