NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) AND Retinal dystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 9, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001073669.3
Allele description [Variation Report for NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)]
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
Assertion and evidence details
Last Updated: Sep 29, 2024