NM_001199107.2(TBC1D24):c.145G>A (p.Ala49Thr) AND Familial infantile myoclonic epilepsy
- 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:
- RCV000379638.5
Allele description [Variation Report for NM_001199107.2(TBC1D24):c.145G>A (p.Ala49Thr)]
NM_001199107.2(TBC1D24):c.145G>A (p.Ala49Thr)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024