Mutation Details for c.3985G>C
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cDNA Name
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c.3985G>C
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Protein Name
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p.Glu1329Gln
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Exon or Intron
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exon 25
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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 is a case of 11 year old male child with a history of frequent episodes of cough and difficulty in breathing since 2 years of age, abdominal distension on and off, voluminous oily stools and failure to thrive. Spirometry revealed restrictive lung function (FVC and FEV1 were 61 and 64% respectively) (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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