Mutation Details for c.3774_3775insG
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cDNA Name
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c.3774_3775insG
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Protein Name
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p.Arg1259GlufsX6
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Exon or Intron
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exon 23
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Legacy Exon or Intron
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exon 20
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3906insG
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Other Details
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A novel CFTR mutation was detected by DGGE screening and subsequent direct sequencing : this mutation is a G insertion after position 3906 in exon 20 (3906 ins G).
The mutation was detected on 1 french CF chromosome out of 109 non-[delta]F chromosomes screened. The 5 year old CF girl carries one other rare mutation on the other allele. She is suffering from a severe CF (PI)
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Contributors
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Feldmann D,
Magnier C,
Chauve C,
Aymard P,
Hermelin B,
Fauroux B
1993-11-26
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Institute
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Hopitaux de Paris
Paris, France
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Submitted Phenotype Details
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Reference
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Feldman et al. (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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