Mutation Details for c.2859_2890delACATTCTGTTCTTCAAGCACCTATGTCAACCC
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cDNA Name
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c.2859_2890delACATTCTGTTCTTCAAGCACCTATGTCAACCC
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Protein Name
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p.Leu953PhefsX11
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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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2991del32
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Other Details
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The German CF patient is heterozygous for [delta]F508 and suffers from a very severe course of disease including pancreatic, pulmonary and hepatobiliary symptoms. The deletion is easily available on NuSieve agarose gels.
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Contributors
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Dork T,
Tummler B
1992-06-08
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Institute
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Medizinsiche Hochschule Hannover
Hannova, Germany
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Submitted Phenotype Details
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The patient (male, 16) was diagnosed with CF at birth, with meconium ileus.. He is PI, has severe lung disease (FEV1 36%) and carries DelF508 on the other allele.
(Doerk et all 1994 and pers. corr. Doerk)
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Reference
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Dörk et al. 1994c
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