Mutation Details for c.1739_1740insT
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cDNA Name
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c.1739_1740insT
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Protein Name
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p.Leu581PhefsX8
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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1874insT
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Other Details
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Mutation Y577F and 1874insT were found together in another CF patient from Austria; this boy is also heterozygous for [delta]F508.
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Contributors
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Dörk T,
Skawran B,
Antonin W,
Ebhard M,
Stegh A,
Ellemunter H,
Schmidtke J,
Stuhrmann M
1995-12-07
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Institute
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Medizinische Hochschule
Hannover, Germany
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Submitted Phenotype Details
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One male patient (15 y) diagnosed with CF at 6 month. He isPI, has severe lung disease (FEV1 27%) and sweat chloride 116 mmol/l. He carries DelF508 on the other allele.
(pers.corr.Doerk)
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Reference
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Dörk et al (NL#67)
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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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