NM_000436.4(OXCT1):c.1555G>A (p.Ala519Thr) AND Succinyl-CoA acetoacetate transferase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000298531.5
Allele description [Variation Report for NM_000436.4(OXCT1):c.1555G>A (p.Ala519Thr)]
NM_000436.4(OXCT1):c.1555G>A (p.Ala519Thr)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023