Mutation Details for c.1209G>A
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cDNA Name
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c.1209G>A
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Exon or Intron
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exon 9
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Legacy Exon or Intron
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exon 8
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1341G->A
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Other Details
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This nucleotide change was detected two unrelated patients. The second mutation is G673X in one of them and remains unknown in the other one. The phenotype is severe in both with pancreatic and respiratory symptoms although one of them was diagnosed when she was 12 years old. This mutation was communicated to the European Community Concerted Action on Cystic Fibrosis (ECCACF) and published on its Newsletter Vol3, No8 dated on July 1998. The information also appeared in Hum Mut as Mutation in Brief (#252-1999). The mutation was previously included as a polymorphism in the database (December 31th 1998) by Casals et al.
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Contributors
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Telleria J J,
Alonso M J
1999-06-01
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Institute
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Instituto de Biologia y Genetica Molecular
Facultad de Medicina,
Valladolid, Spain
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Submitted Phenotype Details
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Two patients (females):
-one diagnosed at 12y, has mild lung disease, is PI, sweat chloride >100mmol/l;excellent nutritional status; G673X on the other allele.
-one diagnosed at 2y6m, has severe lung disease, is PI, sweat chloride >100mmol/l; Unknown other mutation.
(pers. corr. Telleria)
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Reference
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Telleria & Alonso 1998
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