NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002490740.1
Allele description [Variation Report for NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)]
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)
Condition(s)
- Name:
- Leber congenital amaurosis 2 (LCA2)
- Synonyms:
- AMAUROSIS CONGENITA OF LEBER II; Amaurosis congenita of Leber, type 2; RPE65-Related Leber Congenital Amaurosis
- Identifiers:
- MONDO: MONDO:0008765; MedGen: C1859844; Orphanet: 65; OMIM: 204100
Assertion and evidence details
Last Updated: May 1, 2024