Mutation Details for c.1713_1714delAG
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cDNA Name
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c.1713_1714delAG
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Protein Name
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p.Asp572LeufsX16
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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1845delAG/1846delGA
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Other Details
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This mutation was detected by DGGE analysis followed by direct sequencing in a CF patient carrying [delta]F508 in the other chromosome. It was found once out of 800 Italian CF chromosomes and 100 control chromosomes from Italian population.
It was identified in a CF male presenting with meconium ileus and sweat test of 130 mEq/l chloride. At 13 months old, he is in very good clinical condition with growth in the normal range and no pulmonary disease.
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Contributors
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Seia M,
Padoan R,
Cantù A,
Giunta A
1999-09-23
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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 male CF patient, diagnosed at 2 months of age, presenting with meconium ileus. He is PI, has sweat chloride 130 mmol/l and no pulmonary disease. He carries deltaF508 on the other allele. The mutation was also found in one additional patient with neonatal hypertrypsinemia. (pers. corr. Padoan)
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Reference
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Seia et al. 1999
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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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