NM_000159.4(GCDH):c.679C>G (p.Arg227Gly) AND Glutaric aciduria, type 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003031954.3
Allele description [Variation Report for NM_000159.4(GCDH):c.679C>G (p.Arg227Gly)]
NM_000159.4(GCDH):c.679C>G (p.Arg227Gly)
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
-
mothers against decapentaplegic homolog 3 isoform 4 [Homo sapiens]
mothers against decapentaplegic homolog 3 isoform 4 [Homo sapiens]gi|223029444|ref|NP_001138576.1|Protein
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Last Updated: Sep 29, 2024