Mutation Details for c.2052_2053insA
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cDNA Name
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c.2052_2053insA
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Protein Name
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p.Gln685ThrfsX4
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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2184insA
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Other Details
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In two German patients we identified an insertion of an A nucleotide into the stretch of seven A's from position 2178 to 2184 (2184insA). the insertion was found on two different alleles (haplotypes C and D) out of 72 non-[delta]F508 CF chromosomes. Four further German patients carry a previously reported complex deletion at the same position.
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Contributors
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Kalin N,
Dork T,
Tummler B
1992-01-02
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Institute
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Medizinische Hochschule Hannover
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Phenotype Information
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CFTR2
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Reference
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Kälin et al. (NL#41)
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