Gene Symbol: GNAT2
OMIM: 139340Chromosome location: 1p13.3
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Achromatopsia-4 |
|---|
| Dna Change: | c.937C>T |
|---|
| Protein Change: | p.Arg313X |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Nonsense |
|---|
| Location: | exon 8 |
|---|
| Transcript: | NM_005272.3 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| 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