NM_000159.4(GCDH):c.735C>A (p.Leu245=) AND Glutaric aciduria, type 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 25, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002183137.5
Allele description [Variation Report for NM_000159.4(GCDH):c.735C>A (p.Leu245=)]
NM_000159.4(GCDH):c.735C>A (p.Leu245=)
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
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Homologene neighbors for GEO Profiles (Select 106497983) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 106474896) (173)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 30552794) (20)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 530017) (20)
GEO Profiles
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Homo sapiens chromosome 19 open reading frame 66, mRNA (cDNA clone MGC:46073 IMA...
Homo sapiens chromosome 19 open reading frame 66, mRNA (cDNA clone MGC:46073 IMAGE:5554801), complete cdsgi|34191915|gb|BC035817.2|Nucleotide
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Last Updated: Jun 9, 2024