NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp) AND Retinal dystrophy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 12, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001074240.2
Allele description [Variation Report for NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp)]
NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp)
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: Jun 23, 2024