Mutation Details for c.(?_3469)_(3717_?)del5.3kb
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.(?_3469)_(3717_?)del5.3kb
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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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CFTRdele19
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Other Details
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CFTRdel19 is a new deletion of 5.3kb removing exon 19, identified at the homozygous state in a fetus with hyperechogenic bowel, from Turkish origin. It was suspected in the fetus on the absence of amplification of exon 19. The diagnosis of CF was confirmed after birth by a positive sweat test.
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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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CFTRdele19 was found in a homozygous 5y F patient, who is PI, has positive sweat chloride. (pers. corr. Girodon)
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Reference
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Girodon et al. 1999
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