Mutation Details for c.2947_2948delTT
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cDNA Name
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c.2947_2948delTT
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Protein Name
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p.Leu983GlyfsX2
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Exon or Intron
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exon 18
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Legacy Exon or Intron
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exon 16
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3079delTT
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Other Details
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The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in a baby girl whose other CF mutation is [delta]F508. We have seen it only once in 100 samples tested.
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Contributors
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Haworth A,
Malone G,
Schwartz M
1997-01-17
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Institute
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Royal Manchester Children's Hospital,
England
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Submitted Phenotype Details
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The patient (female) carries DelF508 on the other allele.
(pers. corr. Schwarz)
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Reference
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Haworth et al. (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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