Mutation Details for c.42delA
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cDNA Name
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c.42delA
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Protein Name
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p.Lys14AsnfsX11
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Exon or Intron
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exon 1
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Legacy Exon or Intron
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exon 1
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174delA
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Other Details
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frameshift mutation 174delA was identified in a heterozygous CBAVD patient with a yet uncharacterized other allele.
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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) was diagnosed at 30y with CBAVD. He is PS, has sweat chloride 42 mmol/l and no lung disease. He carries V938G on the other allele.
(pers. corr. Dork)
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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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