Mutation Details for c.3855delC
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cDNA Name
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c.3855delC
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Protein Name
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p.Phe1286LeufsX3
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Exon or Intron
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exon 23
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Other Details
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This was a case of 34 years old male with PI, bronchiectasis and chronic cough. His sweat chloride was 108 mEq/L, IRT 0.83µg/L and CT abdomen showed pancreatic atrophy (pers. corr. Prasad).
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Contributors and Institutes
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| Sharma N | - | Postgraduate Institute of Medical Education and Research, Chandigarh, India. | | Singh M | - | Postgraduate Institute of Medical Education and Research, Chandigarh, India. | | Kaur G | - | Postgraduate Institute of Medical Education and Research, Chandigarh, India. | | Prasad R | - | Postgraduate Institute of Medical Education and Research, Chandigarh, India. |
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Submitted Phenotype Details
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This was a case of 34 years old male with PI, bronchiectasis and chronic cough. His sweat chloride was 108 mEq/L, IRT 0.83µg/L and CT abdomen showed pancreatic atrophy (pers. corr. Prasad).
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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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