NM_000274.4(OAT):c.1160-15A>G AND Ornithine aminotransferase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003858204.2
Allele description [Variation Report for NM_000274.4(OAT):c.1160-15A>G]
NM_000274.4(OAT):c.1160-15A>G
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
-
CYFIP-related Rac1 interactor B isoform 1 [Homo sapiens]
CYFIP-related Rac1 interactor B isoform 1 [Homo sapiens]gi|1213953225|ref|NP_001340179.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024