Mutation Details for c.2936A>C
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cDNA Name
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c.2936A>C
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Protein Name
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p.Asp979Ala
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Exon or Intron
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exon 18
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Legacy Exon or Intron
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exon 16
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D979A
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Other Details
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D979A was found in a Vietnamese CBAVD patient carrying a yet unknown mutation on the other allele.
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Contributors
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Dörk T,
Stuhrmann M
1996-04-29
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Institute
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Medizinische Hochschule,
Hannover, Germany
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Submitted Phenotype Details
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The patient (male, 31) was diagnosed at 30 with CBAVD. He is PS, has mild lung disease (FEV1 70%) and sweat chloride 55 mmol/l. He carries the 5T mutation on the other allele.
(pers. corr. Doerk)
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Reference
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Dörk and Sturhmann (NL#68)
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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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