Mutation Details for c.1373delG
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cDNA Name
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c.1373delG
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Protein Name
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p.Gly458AspfsX11
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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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1504delG
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Other Details
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The 1504 delG mutation was detected in a 6 year old African-American female CF patient. The other allele is the 3791delC mutation. The patient was diagnosed at the age of one and a half year with sweat chloride concentration of 130 mM. No other clinical information is available to us.
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Contributors
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Mackova A,
Macek MJr,
Cutting GR
1994-08-10
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Institute
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Center for Medical Genetics
Baltimore, MD, USA
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Submitted Phenotype Details
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Reference
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Mackova et al. (NL#63)
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