NM_025114.4(CEP290):c.322C>T (p.Arg108Ter) AND Night blindness
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 15, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001030763.2
Allele description [Variation Report for NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)]
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)
Condition(s)
- Name:
- Night blindness
- Synonyms:
- Nyctalopia
- Identifiers:
- MONDO: MONDO:0004588; MedGen: C0028077; Human Phenotype Ontology: HP:0000662
Assertion and evidence details
Last Updated: Sep 29, 2024