NM_000350.3(ABCA4):c.4537del (p.Gln1513fs) AND Retinal dystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 22, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001074966.1
Allele description [Variation Report for NM_000350.3(ABCA4):c.4537del (p.Gln1513fs)]
NM_000350.3(ABCA4):c.4537del (p.Gln1513fs)
Condition(s)
- Name:
- Retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
Assertion and evidence details
Last Updated: Mar 30, 2024