OMIM: 613856Inheritance: Autosomal recessive
Classification: Diseases of the eye and adnexa
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | GNAT2 |
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| Dna Change: | c.937C>T |
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| Protein Change: | p.Arg313X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Nonsense |
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| Location: | exon 8 |
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| Transcript: | NM_005272.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Tunisia | NA | NA | 1 patients | NA | Ouechtati F et al., 2011Ouechtati F, Merdassi A, Bouyacoub Y, Largueche L, Derouiche K, Ouragini H, Nouira S, Tiab L, Baklouti K, Rebai A, Schorderet DF, Munier FL, Zografos L, Abdelhak S, El Matri L, . Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.. J. Hum. Genet.. 2011; 56(1):22-8 |
References
Ouechtati F, Merdassi A, Bouyacoub Y, Largueche L, Derouiche K, Ouragini H, Nouira S, Tiab L, Baklouti K, Rebai A, Schorderet DF, Munier FL, Zografos L, Abdelhak S, El Matri L, Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.J. Hum. Genet.. 2011; 56(1):22-8