Mutation Details for c.3709G>A
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cDNA Name
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c.3709G>A
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Protein Name
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p.Gly1237Ser
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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G1237S
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Other Details
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This mutation was found by SSCA and direct DNA sequencing in a woman 35 years old with bronchiectasis.
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Contributors
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Casals T,
Gimenez J,
Ramos M D,
Estivill X
2000-08-02
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Institute
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CGMM
IRO
Barcelona, Spain
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Submitted Phenotype Details
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This mutation was found in 2 patients (siblings).
1. patient (F) is 36y, has PS, FEV1=39%, bronchiectasis and sweat-chloride levels of 45mM/l.
No other mutation has been found.
2. patient (M) is 40, has PS, FEV1=73%, bronchiectasis and sweat-chloride levels of 37%. He also has Oligo azoospermia.
No other mutation has been found.
(Pers. corr. Casals)
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Reference
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Casals 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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