Mutation Details for c.274-1G>C
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cDNA Name
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c.274-1G>C
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Exon or Intron
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intron 3
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Legacy Exon or Intron
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intron 3
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406-1G->C
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Other Details
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This mutation creates a new Rsa I restriction site, and has been detected in an Italian CF patient using SSCP analysis and direct sequencing.
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Contributors
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Bonizzato A,
Gasparini P
1992-04-18
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Institute
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Instituto di Ricovero e Cura a Carattere Scientifico
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Submitted Phenotype Details
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Patient (F) is 15y, was diagnosed at birth, is PI, has FEV1=55% and sweat-chloride 98mmol/l. G542X was found on the other chromosome.
(Pers. corr. Bonizzato)
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Reference
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Bonizzato 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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