NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) AND Retinal dystrophy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 23, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001074061.2
Allele description [Variation Report for NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)]
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)
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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MULTISPECIES: 30S ribosomal protein S12 methylthiotransferase accessory factor Y...
MULTISPECIES: 30S ribosomal protein S12 methylthiotransferase accessory factor YcaO [Pseudoalteromonas]gi|503229049|ref|WP_013463710.1|Protein
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Danio rerio WW domain binding protein 2, mRNA (cDNA clone MGC:64061 IMAGE:679414...
Danio rerio WW domain binding protein 2, mRNA (cDNA clone MGC:64061 IMAGE:6794142), complete cdsgi|31419212|gb|BC053232.1|Nucleotide
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ft54h06.x1 Gong zebrafish ovary Danio rerio cDNA clone IMAGE:5154659 3', mRNA se...
ft54h06.x1 Gong zebrafish ovary Danio rerio cDNA clone IMAGE:5154659 3', mRNA sequencegi|16060572|gnl|dbEST|9766476|gb|BI 9.1|Nucleotide
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Danio rerio onecut homeodomain protein mRNA, complete cds
Danio rerio onecut homeodomain protein mRNA, complete cdsgi|17999892|gb|AY046954.1|Nucleotide
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P-type conjugative transfer protein TrbL [Caulobacter vibrioides]
P-type conjugative transfer protein TrbL [Caulobacter vibrioides]gi|501787783|ref|WP_012640559.1|Protein
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Last Updated: Sep 29, 2024