Mutation Details for c.165-12_165-11insA
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cDNA Name
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c.165-12_165-11insA
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Exon or Intron
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intron 2
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Legacy Exon or Intron
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intron 2
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297-12insA
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Other Details
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This mutation, located in the polypyrimidine tract of the acceptor splice site of intron 3, could affect the normal splicing of intron 3. It was found in the father of a fetus who presented with a hyperechogenic bowel. The fetus did not inherit this mutation. 297-12insA creates a MseI restriction site.
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Contributors
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Girodon E,
Cazeneuve C,
Sternberg D,
Costes B,
Goossens M
1999-11-23
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Institute
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Service de Biochimie-Genetique Hopital Henri-Mondor,
France
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Submitted Phenotype Details
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No additional clinical data available. (pers. corr. Girodon)
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Reference
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Girodon et al. 1999
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