NM_178857.6(RP1L1):c.1540G>A (p.Gly514Ser) AND Occult macular dystrophy
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Nov 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000369318.7
Allele description [Variation Report for NM_178857.6(RP1L1):c.1540G>A (p.Gly514Ser)]
NM_178857.6(RP1L1):c.1540G>A (p.Gly514Ser)
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
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Homo sapiens retinol binding protein 5, cellular, mRNA (cDNA clone MGC:32522 IMA...
Homo sapiens retinol binding protein 5, cellular, mRNA (cDNA clone MGC:32522 IMAGE:4613026), complete cdsgi|20810176|gb|BC029355.1|Nucleotide
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Last Updated: Sep 29, 2024