Mutation Details for c.1132C>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.1132C>T
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Protein Name
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p.Gln378X
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Exon or Intron
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Other Details
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Mutation found by NGS CFTR kit, confirmed with sanger sequencing
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Contributors and Institutes
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| mgr Malgorzata Libik PhD, Faculty Hospital Motol,Czech Republic, Prof. Eman Fouda Ain Shams University,Egypt, Prof. Milan Macek, Faculty Hospital Motol, Czech Republic | - | |
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Submitted Phenotype Details
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Egyptian patient, homozygous for this mutation c.1132C>T
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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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