NM_001110792.2(MECP2):c.722C>A (p.Ser241Ter) AND Rett syndrome
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Mar 15, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000193948.9
Allele description [Variation Report for NM_001110792.2(MECP2):c.722C>A (p.Ser241Ter)]
NM_001110792.2(MECP2):c.722C>A (p.Ser241Ter)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024