Mutation Details for c.274-2A>G
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cDNA Name
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c.274-2A>G
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Exon or Intron
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intron 3
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Legacy Exon or Intron
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intron 3
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406-2A->G
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Other Details
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Splice mutation 406-2 A->G was detected in a homozygous CF patient from the United Arabian Emirates.
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Contributors
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Dörk T,
El-Harith E-H,
Ellemunter H,
Schmidtke J,
Stuhrmann M
1996-08-13
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Institute
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Institut fur Humangenetik, Medezinische Hochschule Hannover,
Hannover, Germany.
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Submitted Phenotype Details
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One homozygous for 406-2A->G CF patient (female, 1y8m) was diagnosed at birth, with meconium ileus. She is PI and has sweat chloride of 90 mmol/l.(El-Harith et all 1997 and pers. corr. Doerk)
406-2A->G was found in a 14y male diagnosed at <9y with DIOS. He has mild pulmonary symptoms and carries deltaF508 on the other allele.(pers. corr. Girodon)
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Reference
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Dörk 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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