NM_000274.4(OAT):c.1053A>G (p.Lys351=) AND Ornithine aminotransferase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002110282.5
Allele description
NM_000274.4(OAT):c.1053A>G (p.Lys351=)
Condition(s)
- Name:
- Ornithine aminotransferase deficiency (GACR)
- Synonyms:
- OAT deficiency; Ornithine ketoacid aminotransferase deficiency; Gyrate atrophy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009796; MedGen: C0018425; Orphanet: 414; OMIM: 258870
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Chain B, PEA LECTIN
Chain B, PEA LECTINgi|157879959|pdb|1RIN|BProtein
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Oxazines
OxazinesSix-membered heterocycles containing an oxygen and a nitrogen.<br/>MeSH
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Last Updated: Feb 20, 2024