Mutation Details for c.1210-2A>C
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cDNA Name
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c.1210-2A>C
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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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1342-2A->C
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Other Details
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The nucleotide change 1342-2 A->C was detected in two Cystic Fibrosis families from Southwest Germany. In the first family, the homozygous twins are 15 months old and pancreas insufficient. In the second family, the affected girl is a compound heterozygote for 1342-2 A->C and Y1092X. She is now 13 years old, pancreas insufficient and colonized with P aeruginosa.
1342-2 A->C is preceded by a (TG)12T7 sequence linked to the haplotype 1-1-2-1 (XV2c/KM19/D9/J44) and six GATT repeats. The mutation creates a Mspl site. It was not found in 60 German non CF chromosomes and further 110 non-[delta]F508 CF chromosomes.
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Contributors
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Dork T,
Fslage R,
Tummler B
1993-03-27
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Institute
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Medizinische Hochschule Hannover
Hannover, Germany
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Submitted Phenotype Details
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2 patients
-one homozygous male (1.3y) diagnosed at 2 months, is PI, has early pulmonary infections, has sweat chloride 110mmol/l - CF twins.
-one female (13y) diagnosed with CF at 4.8y, PI, has moderate lung disease, Pseudomonas Aeruginosa colonization. She carries Y1092X on the other allele.
(pers.corr. Doerk)
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Reference
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Dörk et al. 1993b
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