NM_002225.5(IVD):c.457-3_457-2delinsGG AND Isovaleryl-CoA dehydrogenase deficiency
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Aug 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000169022.8
Allele description [Variation Report for NM_002225.5(IVD):c.457-3_457-2delinsGG]
NM_002225.5(IVD):c.457-3_457-2delinsGG
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
-
Homologene neighbors for GEO Profiles (Select 78961662) (0)
GEO Profiles
-
Gene Links for GEO Profiles (Select 78959557) (1)
Gene
-
MTDH metadherin [Homo sapiens]
MTDH metadherin [Homo sapiens]Gene ID:92140Gene
-
Related DataSets for GEO Profiles (Select 116777443) (1)
GEO DataSets
-
Ruptured intracranial aneurysms
Ruptured intracranial aneurysmsAccession: GDS5186GEO DataSets
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024