Gene Symbol: NDRG1
OMIM: 605262Chromosome location: 8q24.22
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Charcot-Marie-Tooth disease, type 4D |
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| Dna Change: | c.442C>T |
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| Protein Change: | p.Arg148X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 7 |
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| Transcript: | NM_001135242 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Turkey | NA | NA | NA | NA | Parman Y et al., 2004Parman Y, Battaloglu E, Baris I, Bilir B, Poyraz M, Bissar-Tadmouri N, Williams A, Ammar N, Nelis E, Timmerman V, De Jonghe P, Najafov A, Necefov A, Deymeer F, Serdaroglu P, Brophy PJ, Said G, . Clinicopathological and genetic study of early-onset demyelinating neuropathy.. Brain. 2004; 127(0):2540-50 |
References
Parman Y, Battaloglu E, Baris I, Bilir B, Poyraz M, Bissar-Tadmouri N, Williams A, Ammar N, Nelis E, Timmerman V, De Jonghe P, Najafov A, Necefov A, Deymeer F, Serdaroglu P, Brophy PJ, Said G, Clinicopathological and genetic study of early-onset demyelinating neuropathy.Brain. 2004; 127(0):2540-50