Mutation Details for c.3876delA
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cDNA Name
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c.3876delA
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Protein Name
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p.Val1293TyrfsX35
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Exon or Intron
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exon 24
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Legacy Exon or Intron
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exon 21
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4006delA
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Other Details
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This mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix.
It was found in one CF patient (with IVS8-5T on the same chromosome and [delta]F508 on the other); mild lung disease, pancreatic insufficency and sweat chlorideas of 95.
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Contributors
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Zielenski J,
Aznarez I,
Tsui L-C
Rawashdeh M,
Khateeb
1999-06-07
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Institute
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The Hospital for Sick Children
Toronto, Canada
Jordan University of Science &
Technology
Aman, Jordan
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Submitted Phenotype Details
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The mutation was found in a Jordanian CF patient carrying deltaF508 on the other allele, mild lung disease, pancreatic insufficency and sweat chloride of 95 mmol/l. (pers. corr. Zielenski)
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Reference
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Zielenski et al. 1999
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