NM_173354.5(SIK1):c.2005G>A (p.Ala669Thr) AND Developmental and epileptic encephalopathy, 30
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- May 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001034283.14
Allele description [Variation Report for NM_173354.5(SIK1):c.2005G>A (p.Ala669Thr)]
NM_173354.5(SIK1):c.2005G>A (p.Ala669Thr)
Condition(s)
Assertion and evidence details
Last Updated: Sep 1, 2024