Mutation Details for c.3717G>A
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cDNA Name
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c.3717G>A
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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3849G->A
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Other Details
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Clinically this patient has moderate to severe pulmonary disease and is pancreatic suficient. This mutation does not cause an amino acid change, but the location of this mutation indicates that it is probably associated with abnormal splicing. This mutation was discovered on only one of 50 non-[delta]F508 CF chromosomes from Northern Irish patients that were screened.
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Contributors
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Cutting GR,
Curristin S
Graham CA,
Hill AJM,
Goon PKC,
Nevin NC
1991-04-19
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Institute
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Johns Hopkins University School of Medicine
Baltimore, MD, USA
Northern Ireland Genetics Service
Belfast City Hospital
Belfast, N Ireland
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Submitted Phenotype Details
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Reference
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Cutting et al. 1992
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