NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr) AND Retinal dystrophy
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Apr 30, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000225533.3
Allele description [Variation Report for NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr)]
NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr)
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: Dec 7, 2024