Mutation Details for c.3915T>A
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cDNA Name
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c.3915T>A
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Protein Name
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p.Asp1305Glu
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Exon or Intron
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exon 24
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Legacy Exon or Intron
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exon 21
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D1305E
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Other Details
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This possible mutation was found by DGGE and identified by DNA sequencing in a CBAVD patient who carries [delta]F508 on the other chromosome. It destroys a BstY I restriction site.
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Contributors
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Claustres M,
Guitard C,
Desgorges M,
Carles S
1997-05-13
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Institute
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Institut de Biologie Montpellier
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Submitted Phenotype Details
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Patient (M) is is 30y, has PS, no lung disease and CBAVD.
DeltaF508 and 3212C>T were both found on the other allele.
(Pers. corr. Claustres)
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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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