Mutation Details for c.2502_2503insT
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cDNA Name
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c.2502_2503insT
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Protein Name
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p.Asp835X
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Exon or Intron
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exon 15
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Legacy Exon or Intron
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exon 14a
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2634insT
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Other Details
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This mutation was found by DGGE and identified by DNA sequencing in a patient from Southern France. It does not modify any restriction site.
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Contributors
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Claustres M,
Guittard C,
Des George M,
Carles S
1998-01-06
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Institute
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Institut de Biologie,
Montpellier, France
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Submitted Phenotype Details
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The mutation was found in 2 patients:
-a 41 years old male CF patient, diagnosed with CBAVD, who has severe lung disease and sweat chloride of 130 mmol/l. He carries deltaF508 on the other allele.
-a 2 years old female PS, with severe pulmonary symptoms and carrting R553X on the other allele.(pers. corr. Claustres)
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Reference
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Claustres et al. (NL#70)
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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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