Mutation Details for c.2981T>G
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cDNA Name
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c.2981T>G
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Protein Name
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p.Phe994Cys
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Exon or Intron
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exon 18
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Legacy Exon or Intron
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exon 16
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F994C
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Other Details
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This mutation was detected by DGGE and direct sequencing in a CBAVD patient from Southern France. The new sequence creates a SfaNI site.
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Contributors
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Claustres M,
Guittard C,
Des George M,
Carles S
1998-01-06
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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) has CBAVD.
5T was found on the same allele as F994C. DeltaF508 was found on the other allele.
(Pers. corr. Claustres)
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Reference
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Claustres et al. (NL#70)
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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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