NM_020686.6(ABAT):c.1147C>T (p.Leu383=) AND Gamma-aminobutyric acid transaminase deficiency
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000391177.14
Allele description [Variation Report for NM_020686.6(ABAT):c.1147C>T (p.Leu383=)]
NM_020686.6(ABAT):c.1147C>T (p.Leu383=)
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 5, 2024