NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp) AND Retinal dystrophy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 17, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001074908.2
Allele description [Variation Report for NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp)]
NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp)
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
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Last Updated: Sep 29, 2024