NM_001323289.2(CDKL5):c.1579C>T (p.Pro527Ser) AND CDKL5 disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003448340.2
Allele description [Variation Report for NM_001323289.2(CDKL5):c.1579C>T (p.Pro527Ser)]
NM_001323289.2(CDKL5):c.1579C>T (p.Pro527Ser)
Condition(s)
- Name:
- CDKL5 disorder
- Identifiers:
- MONDO: MONDO:0100039; MedGen: CN296942
Assertion and evidence details
Last Updated: Sep 1, 2024