Mutation Details for c.2989-3C>G
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cDNA Name
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c.2989-3C>G
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Exon or Intron
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intron 18
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Legacy Exon or Intron
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intron 16
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3121-3C->G
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Other Details
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This mutation was detected by DGGE and identified by direct sequencing.
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Contributors
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Dr Thierry Bienvenu1, François Cartault2, Michel Renouil3
2003-05-03
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Institute
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1 Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin, 123 bld de Port Royal, 75014 Paris, France; 2 Service de Génétique, CHD Felix Guyon, St Denis, La Réunion, France; 3 Service de Pédiatrie, CHS Reunion, St Pierre, La Réunion, France.
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Submitted Phenotype Details
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This mutation was identified in a male subject with "classical" cystic fibrosis. His other mutation is F508del. He is from Reunion Island. CF was suspected in the neonate by elevated serum trypsinogen (145ng/ml) and confirmed by pathological sweat test values (108-112 mM). Exocrine pancreatic insufficiency was ascertained by increased fat content in stool samples (17.6g/24h). No respiratory disease was observed at the age of 6 months.
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Reference
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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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