Mutation Details for c.3956C>A
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cDNA Name
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c.3956C>A
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Protein Name
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p.Ala1319Glu
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Exon or Intron
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exon 24
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Legacy Exon or Intron
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exon 21
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A1319E
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Other Details
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This mutation was identified in trans of deltaF508 in Polish infant during CF newborn screening program. No other mutation was found after sequencing exons: 7,10,11,13,21. Mutations 3849+10kbC>T, dele2,3(21kb) and R117H were also exluded.
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Contributors
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Norek A., Sobczynnska-Tomaszewska A., Wertheim K., Czerska K, Oltarzewski M., Sabds D., Bal J.
2008-09-17
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Institute
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Institute of Mother and Child, Department of Medical Genetics, Warsaw, Poland
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Submitted Phenotype Details
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Girl with typical form of CF:
Abnormal result of sweat test: 1. Cl-=77.4 mmol/L, 2. Cl-=77.5 mmol/L.
Pseudomonas aeruginosa isolated from respiratory secretions.
Observed abnormality in chest X-ray pictures.
Pancreas Sufficient (PS).
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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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