NM_006204.4(PDE6C):c.306G>A (p.Arg102=) AND Achromatopsia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001106047.4
Allele description [Variation Report for NM_006204.4(PDE6C):c.306G>A (p.Arg102=)]
NM_006204.4(PDE6C):c.306G>A (p.Arg102=)
Condition(s)
- Name:
- Achromatopsia
- Synonyms:
- Rod monochromatism
- Identifiers:
- MONDO: MONDO:0018852; MedGen: C0152200; Human Phenotype Ontology: HP:0011516
Assertion and evidence details
Last Updated: Sep 29, 2024