Mutation Details for c.3689T>C
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cDNA Name
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c.3689T>C
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Protein Name
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p.Ile1230Thr
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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I1230T
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Other Details
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This putative mutation was found by DGGE and identified by DNA sequencing. It does not modify any restriction site.
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Contributors
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Claustres M,
Maugard C
1997-03-21
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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 an aduld, he has PS, no lung disease and OATS.
No other mutation was found.
(Pers. corr. Claustres)
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Reference
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Claustres & Maugard (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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