NM_001298.3(CNGA3):c.107_110del (p.His36fs) AND Abnormality of the eye
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000505144.1
Allele description [Variation Report for NM_001298.3(CNGA3):c.107_110del (p.His36fs)]
NM_001298.3(CNGA3):c.107_110del (p.His36fs)
Condition(s)
- Name:
- Abnormality of the eye
- Synonyms:
- Globe disease
- Identifiers:
- MONDO: MONDO:0005328; MedGen: C4316870; Human Phenotype Ontology: HP:0000478
Assertion and evidence details
Last Updated: Sep 29, 2024