Mutation Details for c.2502delT
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cDNA Name
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c.2502delT
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Protein Name
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p.Phe834LeufsX10
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Exon or Intron
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exon 15
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Legacy Exon or Intron
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exon 14a
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2634delT
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Other Details
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Name in accordance with the standard nomenclature guidelines (HGVS): c.2502delT or p.Phe834LeuX9
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Contributors
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Claustres M, Altieri JP, Templin C, Guittard C, des Georges M.
2007-04-12
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Institute
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Laboratoire de Genetique Moleculaire. IURC. CHU del Montpellier. France
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Submitted Phenotype Details
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This mutation was identified by DGGE and sequencing in a newborn presenting positive IRT at birth and heterozygous for one common mutation(p.Trp1282X). The swaet test was positive.
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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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