NM_001367721.1(CASK):c.2444T>A (p.Met815Lys) AND Intellectual disability, CASK-related, X-linked
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002801234.3
Allele description [Variation Report for NM_001367721.1(CASK):c.2444T>A (p.Met815Lys)]
NM_001367721.1(CASK):c.2444T>A (p.Met815Lys)
Condition(s)
- Name:
- Intellectual disability, CASK-related, X-linked
- Identifiers:
- MedGen: CN043158
Assertion and evidence details
Last Updated: Sep 29, 2024