NM_019098.5(CNGB3):c.1148del (p.Thr383fs) AND Cone-rod dystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 1, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000787571.2
Allele description [Variation Report for NM_019098.5(CNGB3):c.1148del (p.Thr383fs)]
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
Condition(s)
- Name:
- Cone-rod dystrophy
- Synonyms:
- Cone/cone-rod dystrophy; Cone-rod degeneration
- Identifiers:
- MONDO: MONDO:0015993; MedGen: C4085590; OMIM: PS120970; Human Phenotype Ontology: HP:0000548
Assertion and evidence details
Last Updated: Apr 15, 2024