NM_001142800.2(EYS):c.2748C>A (p.Cys916Ter) AND Retinitis pigmentosa 25
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000987731.1
Allele description [Variation Report for NM_001142800.2(EYS):c.2748C>A (p.Cys916Ter)]
NM_001142800.2(EYS):c.2748C>A (p.Cys916Ter)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024