OMIM: 603553Inheritance: Autosomal recessive
Classification: Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | PRF1 |
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| Dna Change: | c.1122G>A |
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| Protein Change: | p.Trp374X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Nonsense |
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| Location: | exon 3 |
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| Transcript: | NM_001083116.1 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Turkey | NA | NA | 13 families/82 Unrelated families | NA | Balta G et al., 2010Balta G, Okur H, Unal S, Yarali N, Gunes AM, Unal S, Turker M, Guler E, Ertem M, Albayrak M, Patiroglu T, Gurgey A, . Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation.. Leuk. Res.. 2010; 34(8):1012-7 |
References
Balta G, Okur H, Unal S, Yarali N, Gunes AM, Unal S, Turker M, Guler E, Ertem M, Albayrak M, Patiroglu T, Gurgey A, Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation.Leuk. Res.. 2010; 34(8):1012-7