NM_001323289.2(CDKL5):c.2371C>T (p.Gln791Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001899898.3
Allele description [Variation Report for NM_001323289.2(CDKL5):c.2371C>T (p.Gln791Ter)]
NM_001323289.2(CDKL5):c.2371C>T (p.Gln791Ter)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024