Mutation Details for c.1209+28C>T
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cDNA Name
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c.1209+28C>T
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Exon or Intron
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intron 9
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Legacy Exon or Intron
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intron 8
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1341+28C/T
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Other Details
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This mutation was detected by DGGE analysis and identified by automatic sequencing in a 22 years old blood male donor. The mutation creates a Dra I restriction site. It was found once out of 100 control chromosomes. It was never observed in 104 chromosomes of Chronic Obstructive Pulmonary Disease (COPD) patients (DGGE), in 46 chromosomes of Diffuse Bronchiectasis (DBE) patients (DGGE), and in 60 chromosomes of CF patients (SSCP).
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Contributors
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Bombieri C,
Belpinati F,
Benetazzo M G,
Pignatti P F
1999-02-01
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Institute
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Inst. Biology and Genetics
University of Verona,
Italy
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Submitted Phenotype Details
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This individual (M) is 22y and is NOT a CF patient.
F1052V and S1235R were both found on the other allele.
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Reference
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Bombieri 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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