Mutation Details for c.2490+14G>A
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cDNA Name
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c.2490+14G>A
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Exon or Intron
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intron 14
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Legacy Exon or Intron
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intron 13
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2622+14G/A
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Other Details
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The G to A sequence variation was found by DGGE analysis followed by sequencing, and confirmed with a Restriction Site Generating PCR assay. The A variant was found twice, in conjunction with N1303K, out of 36 chromosomes from neonates with transient hypertrypsinaemia and heterozygotes for a CF mutation. It was absent in 120 control chromosomes, in 102 chromosomes of Chronic Obstructive Pulmonary Disease patients and in 46 chromosomes of Diffuse Bronchiectasis patients.
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Contributors
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Benetazzo MG,
Bombieri C,
Castellani C,
Pignatti PF
1998-03-30
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Institute
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Ist Biologia e Genetica
Universita' di Verona
Italy
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Submitted Phenotype Details
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The mutation was found in a female subject diagnosed with neonatal hypertrypsinemia. She PS and has normal sweat chloride. N1303K was found on the other allele. (pers. corr. Bombieri)
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Reference
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Benetazzo et al. (NL#70)
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