Mutation Details for c.2125C>T
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cDNA Name
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c.2125C>T
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Protein Name
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p.Arg709X
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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R709X
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Other Details
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This mutation was identified by direct sequencing. The nucleotide change is C->T at position 2257, which leads to R709X in exon 13. This mutation has been detected in a 20 year old female who carries also [delta]F508 on the other chromosome. The mutation was detected on 1 Italian CF chromosome out of 225 screened.
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Contributors
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Nicolis E,
Bonizzato A,
Cabrini G
1993-10-11
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Institute
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Cystic Fibrosis Center
Verona, Italy
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Phenotype Information
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CFTR2
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Reference
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Nicolis et al. (NL#59)
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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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