Mutation Details for c.2210C>T
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cDNA Name
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c.2210C>T
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Protein Name
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p.Ser737Phe
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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S737F
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Other Details
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Contributors
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Dr.Centrone C*.,Dr Pelo E.*,Dr. Dr.Repetto T ‰ª|, Torricelli F*.,
2004-02-17
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Institute
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*U.O.Citogenetica e Genetica A.O. Careggi, viale Morgagni 85, 50134 Florence, Italy,
‰ª| Centro Regionale Fibrosi Cistica, A.O. Meyer, via Luca Giordano, Florence, Italy
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Submitted Phenotype Details
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This mutation was found in two patients with this characteristic: 1.the first patient is 2 years old (male), is pancreatic sufficiency and he has not Pseudomonas infections. The inique clinical manifestation is loss aof salt. Cl= 71 . 2.the second one is compound heterozygote W1282X and S737F, 2 years old (male). He is pancreatic sufficiency and has not Pseudomonas infection. Cl=51
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Reference
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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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