Mutation Details for c.4168C>T
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cDNA Name
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c.4168C>T
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Protein Name
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p.Gln1390X
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Exon or Intron
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exon 26
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Legacy Exon or Intron
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exon 23
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Q1390X
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Other Details
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Name in accordance with the standard nomenclature guidelines(HGVS):
c.4168C>T or p.Gln1390X
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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 sequencing in newborn presenting positive IRT at birth, no common mutation(Elucigene kit CF30 /Tepnel) and positive sweat test (111/114mmol/l). The baby is homozygous for this nonsense mutation, his parents are consanguineous and originating from Turkey.
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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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