NM_001323289.2(CDKL5):c.1152C>G (p.Tyr384Ter) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 28, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000174313.4
Allele description [Variation Report for NM_001323289.2(CDKL5):c.1152C>G (p.Tyr384Ter)]
NM_001323289.2(CDKL5):c.1152C>G (p.Tyr384Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Last Updated: Apr 1, 2023