NM_001698.3(AUH):c.1003C>T (p.Arg335Cys) AND 3-methylglutaconic aciduria type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001878635.5
Allele description [Variation Report for NM_001698.3(AUH):c.1003C>T (p.Arg335Cys)]
NM_001698.3(AUH):c.1003C>T (p.Arg335Cys)
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 28, 2024