Mutation Details for c.1133A>G
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cDNA Name
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c.1133A>G
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Protein Name
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p.Gln378Arg
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Exon or Intron
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exon 9
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Legacy Exon or Intron
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exon 8
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Q378R
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Other Details
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Contributors
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Tzetis M.,
2002-01-01
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Institute
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Department of Medical Genetics University of Athens St Sophia's Children's Hospital
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Submitted Phenotype Details
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The mutation was identified in a patient (male, 4y) diagnosed at 8 months of age. He was diagnosed with rectal prolapse, is PI and presented with meconium ileus at birth. The other CFTR mutation is unknown. (pers. corr. Tzetis)
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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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