Mutation Details for c.1726G>T
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cDNA Name
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c.1726G>T
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Protein Name
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p.Gly576X
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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G576X
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Other Details
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The above mutation was discovered by DGGE and identified by direct sequencing. G576X was found in a 4-year old Romanian patient who has severe pulmonary infection since the age of 18 months; the other mutation for this patient is unknown.
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Contributors
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Girodon E,
Costes B,
Cazeneuve C,
Ghanem N,
Goossens M
1995-11-10
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Institute
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Hopital Henri Mondor,
Creteil, France
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Submitted Phenotype Details
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G576X was found in a patient also carrying 621+1G>T on the other allele. The 12y F was diagnosed at 4y, is PI and has severe lung disease. (pers. corr. Girodon)
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Reference
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Girodon et al (NL#67)
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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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