Mutation Details for c.2810_2811insT
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cDNA Name
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c.2810_2811insT
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Protein Name
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p.Val938GlyfsX37
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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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2942insT
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Other Details
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This mutation was detected by TTGE and DNA sequencing. It was found in a patient of Caucasian origin with [delta]F508 on the other allele.
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Contributors
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Zhang YH,
Wong LJ
1999-12-06
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Institute
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Institute for Molecular and Human Genetics
Georgetown University Medical Center,
Washington DC, USA
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Submitted Phenotype Details
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The mutation was identified in a female patient (32y at the time of test) diagnosed at 29 years of age, also carrying deltaF508. Pulmonary function tests are not available. She also has hypothiroidism. (pers corr. Alper)
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Reference
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Zhang & Wong 1999
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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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