Mutation Details for c.2738A>G
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cDNA Name
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c.2738A>G
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Protein Name
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p.Tyr913Cys
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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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Y913C
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Other Details
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This mutation is associated with haplotype A (Caucasian) and it is neither detected in 45 other non-[delta]F508 chromosomes nor in 12 normal or 33 [delta]F508 chromosomes.
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Contributors
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Goossens M,
Vidaud M
1990-04-04
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Institute
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Unite de Recherches en Genetique Moleculaire et en Hematologie
Creteil, France
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Submitted Phenotype Details
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Y913C was found in a male diagnosed at 3m, he was PI, had severe pulmonary symptoms and positive sweat chloride. He died at 20y. He carried deltaF508 on the other allele. (pers. corr. Girodon)
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Reference
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Vidaud et al. 1990
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