NM_145261.4(DNAJC19):c.182G>A (p.Arg61Gln) AND 3-methylglutaconic aciduria type 5
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001393978.7
Allele description [Variation Report for NM_145261.4(DNAJC19):c.182G>A (p.Arg61Gln)]
NM_145261.4(DNAJC19):c.182G>A (p.Arg61Gln)
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
-
gamma-aminobutyric acid receptor subunit rho-1 isoform c [Homo sapiens]
gamma-aminobutyric acid receptor subunit rho-1 isoform c [Homo sapiens]gi|389886549|ref|NP_001254511.1|Protein
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Last Updated: Sep 29, 2024