Mutation Details for c.328G>A
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cDNA Name
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c.328G>A
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Protein Name
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p.Asp110Asn
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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D110N
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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 3 years old female, diagnosed at 2 months with persistent neonatal hypertrypsinemia. She is PS, has no lung disease and sweat chloride was 41-42 mmol/l.. She carries deltaF508 on the other allele. (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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