NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) AND Retinitis pigmentosa 25
- Germline classification:
- Pathogenic/Likely pathogenic (5 submissions)
- Last evaluated:
- Mar 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001376308.11
Allele description [Variation Report for NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)]
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)
Condition(s)
Assertion and evidence details
Last Updated: Sep 8, 2024