NC_000016.9:g.(?_8829577)_(8875307_?)dup AND Gamma-aminobutyric acid transaminase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 2, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000798813.2
Allele description [Variation Report for NC_000016.9:g.(?_8829577)_(8875307_?)dup]
NC_000016.9:g.(?_8829577)_(8875307_?)dup
Condition(s)
- Name:
- Gamma-aminobutyric acid transaminase deficiency
- Synonyms:
- GABA transaminase deficiency; Gamma aminobutyrate transaminase deficiency; 4 alpha aminobutyrate transaminase deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013166; MedGen: C0342708; Orphanet: 2066; OMIM: 613163
Assertion and evidence details
Last Updated: Mar 11, 2023