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cDNA Name
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c.717delG
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Protein Name
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p.Leu240X
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Exon or Intron
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Other Details
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The child was homozygous for deltion of nucleotide in codon 239 rseulting in GGG>GGC ( p.gly239gly) and a stop codon at exon 240 p.Leu240X.
The parents were heterozygous for the mutation
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Contributors and Institutes
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| Dr Renu Saxena / Dr IC Verma/ | - | Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi-110060 |
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Submitted Phenotype Details
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One year old male child with cystic fibrosis found to be homozygous for c.717delG. Sweat chloride test positive
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Reference
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