NM_002225.5(IVD):c.145-9T>C AND Isovaleryl-CoA dehydrogenase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002863381.3
Allele description [Variation Report for NM_002225.5(IVD):c.145-9T>C]
NM_002225.5(IVD):c.145-9T>C
Condition(s)
- Name:
- Isovaleryl-CoA dehydrogenase deficiency (IVA)
- Synonyms:
- Isovaleric acid CoA dehydrogenase deficiency; Isovaleric acidemia; Isovaleryl CoA carboxylase deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009475; MedGen: C0268575; Orphanet: 33; OMIM: 243500
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Chromosome neighbors for GEO Profiles (Select 70800549) (20)
GEO Profiles
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Schizosaccharomyces pombe strain 972h- genome assembly, chromosome: I
Schizosaccharomyces pombe strain 972h- genome assembly, chromosome: Igi|162312575|ref|NC_003424.3||gnl|A F_000002945.2|INucleotide
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Gene Links for Nucleotide (Select 22382024) (2)
Gene
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Last Updated: Sep 29, 2024