Mutation Details for c.2719A>G
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cDNA Name
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c.2719A>G
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Protein Name
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p.Ile907Val
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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2851A/G
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Other Details
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This sequence variation was found by DGGE and identified by DNA fluorescent sequencing in a CBAVD patient from Southern France, who carries [delta]F508 on the same chromosome and the 5T allele in intron 8 in trans.
This variation creates a restriction site for MaeIII.
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Contributors
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Claustres M,
Des Georges M,
Guittard C
2000-02-14
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Institute
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Institut de Biologie Monpelier
France
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Submitted Phenotype Details
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Patient (M) is 33y, has PS, no lung disease and CBAVD.
DeltaF508 was found on the same allele as 2851A/G, 5T was found on the other allele.
(Pers. corr. Claustres)
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Reference
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Claustres 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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