Mutation Details for c.1052C>G
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cDNA Name
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c.1052C>G
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Protein Name
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p.Thr351Ser
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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T351S
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Other Details
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This change is very likely to be a polymorphism as it was observed on one chromosome of a healthy obligate carrier (the father of a CF child) bearing the R1162X mutation.
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Contributors
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Ferec C,
Quere I,
Audrezet MP,
Mercier B,
Lissens W,
Bonduelle M,
Liebaers I
1992-10-14
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Submitted Phenotype Details
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The mutation is not related to French CF. (pers. corr. Ferec)
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Reference
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Ferec et al. (NL #49)
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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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