NM_000159.4(GCDH):c.636-1G>A AND Glutaric aciduria, type 1
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Feb 10, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000180102.3
Allele description [Variation Report for NM_000159.4(GCDH):c.636-1G>A]
NM_000159.4(GCDH):c.636-1G>A
Condition(s)
- Name:
- Glutaric aciduria, type 1
- Synonyms:
- GA I; Glutaryl-CoA dehydrogenase deficiency; Glutaric acidemia type I; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009281; MedGen: C0268595; Orphanet: 25; OMIM: 231670
Assertion and evidence details
Last Updated: Jun 17, 2024