NM_006204.4(PDE6C):c.211G>T (p.Glu71Ter) AND Achromatopsia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 1, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000664190.1
Allele description [Variation Report for NM_006204.4(PDE6C):c.211G>T (p.Glu71Ter)]
NM_006204.4(PDE6C):c.211G>T (p.Glu71Ter)
Condition(s)
- Name:
- Achromatopsia
- Synonyms:
- Rod monochromatism
- Identifiers:
- MONDO: MONDO:0018852; MedGen: C0152200; Human Phenotype Ontology: HP:0011516
-
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See more...Assertion and evidence details
Last Updated: Dec 2, 2023