Mutation Details for c.1911delG
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cDNA Name
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c.1911delG
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Protein Name
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p.Gln637HisfsX26
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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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2043delG
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Other Details
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This mutation, associated with haplotype B, also creates a stop codon (TAA) 25 codons therafter.
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Contributors
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Fanen P,
Ghanem N,
Goossens M
1991-07-19
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Institute
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Unite de Recherches en Genetique Moleculaire et en Hematologie
Creteil, France
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Submitted Phenotype Details
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The 2043delG mutation was found in 2 patients, 23+18y, carrying deltaF508 on the other allele, both PI with severe lung disease, havin associated rectal prolapse and diabetes.(pers. corr. Girodon)
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Reference
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Fanen et al. 1992
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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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