Mutation Details for c.-461A>G
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cDNA Name
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c.-461A>G
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Exon or Intron
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promoter
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Legacy Exon or Intron
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promoter and 5' UTR
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-329A/G
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Other Details
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This is probably a polymorphism since it was found in a boy born with meconium ileus who has [delta]F508 on the other allele. This child is now one year old, remains well and his sweat Na+ and Cl- were 12 mM and 6mM respectively. -329A->G was also detected by SSCP/heteroduplex analysis and creates a novel PvuII restriction site. This substitution was found only once in 98 chromosomes.
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Contributors
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Wallace A,
Tassabehji
1994-02-18
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Institute
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St. Mary's Hospital
Manchester, England
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Submitted Phenotype Details
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Reference
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Wallace & Tassabehji (NL#61)
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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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