NM_152443.3(RDH12):c.806_810del (p.Ala269fs) AND Retinal dystrophy
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- May 22, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000504920.4
Allele description [Variation Report for NM_152443.3(RDH12):c.806_810del (p.Ala269fs)]
NM_152443.3(RDH12):c.806_810del (p.Ala269fs)
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: Oct 20, 2024