Mutation Details for c.3107C>T
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.3107C>T
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Protein Name
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p.Thr1036Ile
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Exon or Intron
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Other Details
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He is from the Qazvin province, located between the centre and north-west of Iran.
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Contributors and Institutes
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| Reza Alibakhshi and Roya Kianishirazi | - | Department of Biochemistry, School of Medicine, Kermanshah University of Medical Sciences, Kermanshah, Iran. | | Mahdi Zamani | - | Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. | | Jean-Jacques Cassiman and Harry Cuppens | - | Center for human Genetics, KULeuven, Herestraat 49 (602), 3000 Leuven, Belgium |
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Submitted Phenotype Details
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The p.T1036I missense mutation is located in exon 17a,
and was found in one patient who carried p.F508del in
compound heterozygosity. He has typical CF.
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Reference
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Alibakhshi R, Kianashirazi R, Jean-Jasques C, Zamani M, Cuppens H. Analysis of the CFTR gene in Iranian cystic fibrosis patients:Identification of eight novel mutations. J Cystic Fibrosis . 2008;7:102–109.
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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