Mutation Details for c.2248_2255del
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cDNA Name
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c.2248_2255del
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Protein Name
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p.Pro750GlnfsX26
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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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2380_2387del
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Other Details
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Name in accordance with the standard nomenclature guidelines(HGVS):
c.2248_2255del or p.Pro750GlnfsX26
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Contributors
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Claustres M, Guittard C, Altieri JP, Templin C, des Georges M.
2008-01-28
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Institute
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Laboratoire de Genetique Moleculaire. IURC. CHU de Montpellier. France
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Submitted Phenotype Details
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This mutation was identified by seqencing in a newborn presenting positive IRT at birth and heterozygous for the mutation p.Gly542X. The sweat test was positive(100/150 mmol/l).
A new polymorphism , 2391C/T was found on the same allele as 2380_2387del.
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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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