Mutation Details for c.3025G>A
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cDNA Name
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c.3025G>A
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Protein Name
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p.Ala1009Thr
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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A1009T
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Other Details
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This mutation was detected by DGGE analysis and identified by automatic sequencing. It was found in 2 out of 600 chromosomes, in 2 adult blood donors. It was never observed in 104 chromosomes of COPD patients, in 68 chromosomes of sarcoidosis patients, in 46 chromosomes of DBE patients, in 106 chromosomes of CF patients.
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Contributors
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Bombieri C,
Belpinati F,
Pignatti PF
2000-04-17
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Institute
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Section of Biology and Genetics
DMIBG, University of Verona,
Italy
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Submitted Phenotype Details
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This individual (M) is 46y and is NOT a CF patient, but a blood donor.
No other mutation was found.
(Pers. corr. Bombieri)
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Reference
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Bombieri et al. 2000
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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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