NM_002225.5(IVD):c.263del (p.Gly88fs) AND Isovaleryl-CoA dehydrogenase deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002309312.2
Allele description [Variation Report for NM_002225.5(IVD):c.263del (p.Gly88fs)]
NM_002225.5(IVD):c.263del (p.Gly88fs)
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
-
Homo sapiens cDNA clone IMAGE:9052968
Homo sapiens cDNA clone IMAGE:9052968gi|219519655|gb|BC144443.1|Nucleotide
-
PREDICTED: uncharacterized protein LOC101207862 [Cucumis sativus]
PREDICTED: uncharacterized protein LOC101207862 [Cucumis sativus]gi|449465158|ref|XP_004150295.1|Protein
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See more...Assertion and evidence details
Last Updated: Dec 24, 2022