NM_000159.4(GCDH):c.1244-1G>A AND Glutaric aciduria, type 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001942026.6
Allele description [Variation Report for NM_000159.4(GCDH):c.1244-1G>A]
NM_000159.4(GCDH):c.1244-1G>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
-
CENPT centromere protein T [Gallus gallus]
CENPT centromere protein T [Gallus gallus]Gene ID:415654Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024