Mutation Details for c.1588A>C
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cDNA Name
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c.1588A>C
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Protein Name
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p.Ile530Leu
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Exon or Intron
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exon 12
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Other Details
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The above mutation was identified by SSCP analysis and characterized by direct DNA sequencing. The mutation was not found on 100 non-CF chromosomes.
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Contributors and Institutes
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| Prasad R | - | 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. | | Sharma N | - | Postgraduate Institute of Medical Education and Research, Chandigarh, India. |
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Submitted Phenotype Details
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This 4 month old female child presented with recurrent respiratory infections and loose stools since 2 months. Her sweat chloride level was 113 mEq/L, was PI, and chest x-ray showed pneumonia, consolidation and hyperinflated chest. Elder sib also had similar complaints and died of pneumonia (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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