Mutation Details for c.3386T>G
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cDNA Name
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c.3386T>G
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Protein Name
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p.Val1129Gly
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Exon or Intron
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exon 21
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Legacy Exon or Intron
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exon 18
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V1129G
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Other Details
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This putative mutation was detected by DGGE and identified by DNA fluorescent sequencing in a young patient from Southern France suspected to have cystic fibrosis. She carries the 1716 G->A polymorphism in trans.
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Contributors
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M.Claustres,M.des Georges,JP.Altieri
2002-12-09
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Institute
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Institut de Biologie, Montpellier
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Submitted Phenotype Details
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The 3 year old female was suspected of CF since 2 year old, having mild respiratory symptoms, sweat chloride 58-70 mmol/l and diarrhea. 1716G->A was found on the other allele. (pers. corr. Claustres).
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Reference
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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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