NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) AND Developmental and epileptic encephalopathy, 12
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001226527.8
Allele description [Variation Report for NM_007254.4(PNKP):c.1221_1223del (p.Thr408del)]
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024