Mutation Details for c.1234delG
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cDNA Name
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c.1234delG
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Protein Name
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p.Ala412GlnfsX30
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Exon or Intron
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exon 10
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Legacy Exon or Intron
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exon 9
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1366delG
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Other Details
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Frameshift mutation 1366delG was identified in a German CF patient who is heterozygous for 1366delG and for the G542X mutation.
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Contributors
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Dörk T,
Frye H,
Stuhrmann M
1997-06-20
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Institute
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Medizinische Hochschule Hannover,
Hannover, Germany
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Submitted Phenotype Details
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One female CF patient carrying G542X 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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