Mutation Details for c.2770G>A
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cDNA Name
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c.2770G>A
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Protein Name
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p.Asp924Asn
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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D924N
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Other Details
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This substitution, located in a transmembrane domain, involves a residue conserved among species and affects the charge of the CFTR protein. It was found in the father of a fetus having hyperechogenic bowel. The man had a Polish origin. There was no family history of CF. The fetus inherited the mutation but no other anomaly was detected after scanning of almost all the CFTR coding regions and screening for 3849+10kbC->T and 1811+1.6kbA->G. The outcome of the pregnancy is still unknown.
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Contributors
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Girodon E,
Cazeneuve C,
Sternberg D,
Costes B,
Goossens M
1999-11-23
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Institute
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Service de Biochimie-Genetique
Hopital Henri-Mondor,
France
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Submitted Phenotype Details
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No additional clinical data available as outcome of pregnancy is unknown. See the original note. (pers. corr. Girodon)
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Reference
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Girodon et al. 1999
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