Mutation Details for c.3218A>G
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cDNA Name
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c.3218A>G
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Protein Name
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p.Tyr1073Cys
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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Y1073C
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Other Details
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Contributors
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Seia M., Padoan R.
2002-01-01
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Institute
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Lab. Genetica Molecolare, Centro Fibrosi Cistica, ICP e Università degli Studi, Italy
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Submitted Phenotype Details
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The mutation was identified in a female patient (17 months old) diagnosed at 6 months with neonatal hypertrypsinemia. Her sweat chloride was 36-44 mmol/l, she was PS and had no lung disease. There is not known other mutation identified. (pers. corr. Padoan)
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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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