NM_025136.4(OPA3):c.417G>C (p.Gln139His) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003098894.2
Allele description
NM_025136.4(OPA3):c.417G>C (p.Gln139His)
Condition(s)
- Name:
- 3-Methylglutaconic aciduria type 3 (MGCA3)
- Synonyms:
- OPA3, AUTOSOMAL RECESSIVE; OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE; 3-methylglutaconic aciduria type III; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009787; MedGen: C0574084; Orphanet: 67047; OMIM: 258501
Assertion and evidence details
Last Updated: Feb 28, 2024