NM_001122769.3(LCA5):c.1486G>T (p.Glu496Ter) AND Leber congenital amaurosis 5
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001257112.1
Allele description [Variation Report for NM_001122769.3(LCA5):c.1486G>T (p.Glu496Ter)]
NM_001122769.3(LCA5):c.1486G>T (p.Glu496Ter)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022