Mutation Details for c.1631G>T
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cDNA Name
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c.1631G>T
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Protein Name
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p.Gly544Val
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Exon or Intron
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exon 12
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Legacy Exon or Intron
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exon 11
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G544V
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Other Details
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This putative mutation was found by DGGE and identified by direct sequencing in a CBAVD patient from
Southern France. It creates a MmeI restriction site.
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Contributors
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Claustres M,
Guittard C,
De Meeus A,
Carles S
1996-07-05
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Institute
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Institut de Biologie Montpellier, France
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Submitted Phenotype Details
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Patient (M) is 28y, has CBAVD and borderline sweat-chloride. DeltaF508 was found on the other allele.
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Reference
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Claustres et al. (NL#69)
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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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