OMIM: 180100Inheritance: Multiple
Classification: Diseases of the eye and adnexa
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | RP1 |
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| Dna Change: | c.1625C>G |
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| Protein Change: | p.Ser542X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Nonsense |
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| Location: | exon 4 |
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| Transcript: | NM_006269.1 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Spain | NA | NA | 4.5% (11 families/244 unrelated families) | NA | Avila-Fernandez A et al., 2012Avila-Fernandez A, Corton M, Nishiguchi KM, Muñoz-Sanz N, Benavides-Mori B, Blanco-Kelly F, Riveiro-Alvarez R, Garcia-Sandoval B, Rivolta C, Ayuso C, . Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.. Ophthalmology. 2012; 119(12):2616-21 |
References
Avila-Fernandez A, Corton M, Nishiguchi KM, Muñoz-Sanz N, Benavides-Mori B, Blanco-Kelly F, Riveiro-Alvarez R, Garcia-Sandoval B, Rivolta C, Ayuso C, Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.Ophthalmology. 2012; 119(12):2616-21