NM_000283.4(PDE6B):c.1670A>G (p.His557Arg) AND Rod-cone dystrophy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 30, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000850087.2
Allele description [Variation Report for NM_000283.4(PDE6B):c.1670A>G (p.His557Arg)]
NM_000283.4(PDE6B):c.1670A>G (p.His557Arg)
Condition(s)
- Name:
- Rod-cone dystrophy
- Identifiers:
- MedGen: C4551714; Human Phenotype Ontology: HP:0000510
Assertion and evidence details
Last Updated: Oct 13, 2024