Mutation Details for c.364T>C
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cDNA Name
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c.364T>C
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Protein Name
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p.Tyr122His
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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Y122H
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Other Details
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This mutation was identified on CFTR gene in one Iranian CBAVD patient.
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Contributors
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Ramin Radpour, Hamid Gourabi, Mohamad Ali Sadighi Gilani, Mina Rezaee, Ahmad Vosough Dizaj, Sepideh Mollamohamadi
2006-03-16
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Institute
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Department of Reproductive Genetics, Reproductive Biomedicine Research Center of Royan Institute, Tehran, Iran
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Submitted Phenotype Details
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A male with congenital bilateral absence of the vas deferen (CBAVD) and azoospermia, without pulmonary or gastrointestinal manifestations of cystic fibrosis.
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Reference
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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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