NM_145261.4(DNAJC19):c.145T>C (p.Tyr49His) AND 3-methylglutaconic aciduria type 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002611704.2
Allele description [Variation Report for NM_145261.4(DNAJC19):c.145T>C (p.Tyr49His)]
NM_145261.4(DNAJC19):c.145T>C (p.Tyr49His)
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
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SCYL1 SCY1 like pseudokinase 1 [Homo sapiens]
SCYL1 SCY1 like pseudokinase 1 [Homo sapiens]Gene ID:57410Gene
-
Gene Links for GEO Profiles (Select 65556356) (1)
Gene
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Last Updated: Feb 20, 2024