Mutation Details for c.3380G>A
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cDNA Name
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c.3380G>A
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Protein Name
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p.Gly1127Glu
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Exon or Intron
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exon 21
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Legacy Exon or Intron
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exon 18
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G1127E
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Other Details
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This mutation has been found in one among 50 non-[delta]F508 CF chromosomes.
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Contributors
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Bienvenu T,
Cazeneuve C,
Tcherkoff L,
Kaplan JC,
Beldjord C
1994-06-22
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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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The female subject is PS and has no pulmonary symptoms. She is a carrier. (pers. corr. Bienvenu)
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Reference
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Bienvenu et al. (NL#63)
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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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