Mutation Details for c.166G>A
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cDNA Name
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c.166G>A
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Protein Name
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p.Glu56Lys
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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E56K
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Other Details
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Missense mutation E56K was identified in a German CBAVD patient heterozygous for this mutation and for [delta]F508.
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Contributors
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Dörk T,
Schmidtke J,
Stuhrmann M
1996-10-06
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Institute
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Insitut fur Humangenetik, Medezinische Hochschule Hannover,
Hannover, Germany.
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Submitted Phenotype Details
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The patient (male,33y) was diagnosed at 32y with CBAVD. He is PS, has sweat chloride 85 mmol/l and recurrent bronchitis. DelF508 is 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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