NM_178857.6(RP1L1):c.1436G>A (p.Gly479Glu) AND Occult macular dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000354140.5
Allele description [Variation Report for NM_178857.6(RP1L1):c.1436G>A (p.Gly479Glu)]
NM_178857.6(RP1L1):c.1436G>A (p.Gly479Glu)
Condition(s)
- Name:
- Occult macular dystrophy (OCMD)
- Synonyms:
- OMD; OCCULT MACULAR DYSTROPHY, SUSCEPTIBILITY TO
- Identifiers:
- MONDO: MONDO:0013316; MedGen: C3150833; Orphanet: 247834; OMIM: 613587; Human Phenotype Ontology: HP:0030636
Assertion and evidence details
Last Updated: Apr 9, 2023