NM_145261.4(DNAJC19):c.181C>T (p.Arg61Trp) AND 3-methylglutaconic aciduria type 5
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001087445.8
Allele description [Variation Report for NM_145261.4(DNAJC19):c.181C>T (p.Arg61Trp)]
NM_145261.4(DNAJC19):c.181C>T (p.Arg61Trp)
Condition(s)
- Name:
- 3-methylglutaconic aciduria type 5
- Synonyms:
- CARDIOMYOPATHY, DILATED, WITH ATAXIA; MGA, TYPE V; 3-methylglutaconic aciduria type V; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012435; MedGen: C1857776; Orphanet: 66634; OMIM: 610198
Assertion and evidence details
Last Updated: Sep 29, 2024