Mutation Details for c.-234T>A
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cDNA Name
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c.-234T>A
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Exon or Intron
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promoter
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Legacy Exon or Intron
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promoter and 5' UTR
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-102T->A
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Other Details
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This possible mutation(?) was found by DGGE then direct sequencing in the region upstream from the CFTR cap site. This change was not found in 200 normal alleles of our series. It was associated with the S549R(T->G) mutation in a CF patient who carries S945L on the other chromosome. It was also detected in another CF patient with genotype S549R(T->G)/[delta]F508, but no parental DNA was available at that time to further determine on which allele -102T->A is carried.
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Contributors
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Claustres M,
Romey M C,
Guittard C,
Desgorges M,
Carles S
1997-01-30
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Institute
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Institut de Biologie Montpelier
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Submitted Phenotype Details
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The mutation was found in 2 CF patients:
-one male, 10 years old, diagnosed at 9 years, PS, FEV1 89%, sweat chloride 90 mmol/l. It was associated with the S549R(T->G) mutation in the CF patient who carries S945L on the other chromosome.
-one female, 6 years old, diagnosed at 3,5 years of age. She is PS, has FEV1 89% and sweat chloride 122 mmol/l. Her genotype is S549R(T->G)/[delta]F508, but no parental DNA was available at that time to further determine on which allele -102T->A is carried.
(pers. corr. Claustres)
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Reference
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Claustres et al. (NL#69)
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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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