Mutation Details for c.2758G>A
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cDNA Name
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c.2758G>A
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Protein Name
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p.Val920Met
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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V920M
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Other Details
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This sequence variation has been found in one among50 non-[delta]F508 CF chromosomes. The mutation destroys an Maell site. The patient has the [delta]F508 defect on the other chromosomes and was diagnosed by meconium ileus.
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Contributors
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Bienvenu T,
Cazeneuve C,
Kaplan JC,
Beldjord C
1994-10-02
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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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One patient, female, diagnosed at birth with meconium ileus, died at 3 months, was PI, had sweat chloride 110 mmol/l. On the other allele she carried delF508. (pers.corr. Bienvenu)
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Reference
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Bienvenu et al. (NL#63)
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