NM_001698.3(AUH):c.197G>C (p.Gly66Ala) AND 3-methylglutaconic aciduria type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003112067.4
Allele description [Variation Report for NM_001698.3(AUH):c.197G>C (p.Gly66Ala)]
NM_001698.3(AUH):c.197G>C (p.Gly66Ala)
Condition(s)
- Name:
- 3-methylglutaconic aciduria type 1
- Synonyms:
- 3 methylglutaconic aciduria type I; MGA type I; 3 alpha methylglutaconic aciduria type I; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009610; MedGen: C0342727; Orphanet: 67046; OMIM: 250950
Assertion and evidence details
Last Updated: Feb 20, 2024