Mutation Details for c.1923_1931del9insA
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cDNA Name
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c.1923_1931del9insA
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Protein Name
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p.Ser641ArgfsX5
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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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2055del9->A
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Other Details
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2055del9->A was detected by SSCP. The deletion removes restriction site for Alu I. The mutation was found in two Mexican (Mestee) CF patients. Patient #1: [delta]F508/2055del9->A; sweat Cl-, 117 mEq/L;
pancreatic insufficiency (PI); moderate-severe lung disease. Patient #2: 2055del9->A/unknown; sweat Cl-, 112 mEq/L; pancreatic insufficiency (PI); moderate lung disease.
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Contributors
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Orozco L,
Villarreal T,
Lezana J L,
Zielenski J,
Markiewicz D,
Tsui L-C
1995-01-30
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Institute
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Instituto Nacional de Pediatria,
Mexico and
The Hospital for Sick Children,
Toronto, Canada
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Submitted Phenotype Details
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No additional clinical data available. See original note. (pers. corr. Zielenski)
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Reference
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Orozco et al. (NL#65)
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