Mutation Details for c.2051_2052delAA
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cDNA Name
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c.2051_2052delAA
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Protein Name
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p.Lys684ThrfsX4
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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2183delAA
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Other Details
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This deletion was found by DGGE and identified by DNA sequencing in a CF patient from Lebanon with 3120+1G->A on the other chromosome. It does not modify any restriction site.
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Contributors
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Claustres M,
Guittard C,
Desgorges M,
Carles S
1997-07-23
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Institute
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Institut de Biologie Montpellier
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Submitted Phenotype Details
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The mutation was found in a CF patient (female, 2y) from Lebanon with 3120+1G->A on the other chromosome. She was diagnosed at 1 year of age, is PI, has severe lung disease and sweat chloride 100 mmol/l. (pers. corr. Claustres)
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Reference
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Claustres 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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