Mutation Details for c.3976delT
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cDNA Name
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c.3976delT
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Protein Name
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p.Ser1326LeufsX2
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Exon or Intron
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exon 25
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Legacy Exon or Intron
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exon 22
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4108delT
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Other Details
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Frameshift mutation 4108delT was found in an Austrian CF patient from Tyrol who is heterozygous for this mutation and for [delta]F508.
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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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The patient (male,4y) was diagnosed at 6 months with CF, after presenting with meconium ileus at birth, sweat chloride 107 mmol/l and the patient is PI. He carries DeltaF508 on the other allele.
(pers.corr. Doerk)
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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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