Mutation Details for c.2989-1G>A
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cDNA Name
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c.2989-1G>A
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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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3121-1G->A
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Other Details
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The above mutation was detected by DGGE and direct sequencing. It was found in a Jewish family in France. The patient is pancreatic inssufficient, with the other CF allele being W1282X. Contact: Delphine Feldmann. 3121-1G->A was also found in a fetus at 14 weeks of gestation by Dr. Claude Férec (Oct 10); the fetus was said to be affected with the other mutation being [delta]F508.
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Contributors
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Feldmann D,
Fontaine J-L,
Magnier C,
Chauve C,
Plouvier E,
Aymard P
1995-09-22
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Institute
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Hopital D'Enfants Armand-Trousseau
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Phenotype Information
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CFTR2
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Reference
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Feldmann 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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