Mutation Details for c.1882G>C
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cDNA Name
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c.1882G>C
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Protein Name
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p.Gly628Arg
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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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G628R(G->C)
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Other Details
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It's a missense mutation which is caused by a substitution of a G to a C at nucleotide position 2014 therby replacing Gly to Arg at amino acid position 628. This mutation has been detected once among 46 unrelated Belgian CF chromosomes.
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Contributors
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Cuppens H,
Marynen P,
Cassiman JJ
1992-06-15
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Institute
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University of Leuven
Leuven, Belgium
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Submitted Phenotype Details
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one male patient (19), diagnosed at 9 mths,no meconium ileus,PS, mild pulmonary disease, sweat chloride 64 mEq/l
(pers. corr. De Boeck)
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Reference
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Cuppens et al. 1993
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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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