NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) AND Retinal dystrophy
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Dec 22, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000504777.5
Allele description [Variation Report for NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)]
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)
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 16, 2024