Mutation Details for c.2758G>T
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cDNA Name
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c.2758G>T
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Protein Name
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p.Val920Leu
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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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V920L
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Other Details
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This substitution, located in a transmembrane domain and which seems conservative, was found in a CBAVD patient heterozygous for ^ÐF508, but chromosomal assignment was not possible. Eight coding regions remain to be analysed. V920L creates a MaeII restriction site.
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Contributors
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Girodon E,
Cazeneuve C,
Sternberg D,
Costes B,
Goossens M
1999-11-23
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Institute
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Service de Biochimie-Genetique
Hopital Henri-Mondor,
France
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Submitted Phenotype Details
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V920L was found in a male patient with CBAVD also carrying deltaF508 on the other allele. (pers. corr. Girodon)
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Reference
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Girodon et al. 1999
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