Mutation Details for c.3213G>T
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cDNA Name
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c.3213G>T
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Protein Name
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p.Gln1071His
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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Q1071H
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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 normal adult female.
It creates a restriction site for FokI.
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Contributors
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Claustres M,
Bouchut A,
Guittard C
2000-07-19
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Institute
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Institut de Biologie Monpellier
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Submitted Phenotype Details
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This individual (F) is NOT a CF patient, no other mutation was found.
(Pers. corr. Claustres)
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Reference
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Clasutres et al. 2000
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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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