Mutation Details for c.3140-9A>T
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cDNA Name
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c.3140-9A>T
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Exon or Intron
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intron 19
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Legacy Exon or Intron
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intron 17a
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3272-9A->T
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Other Details
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The above mutation was detected by DGGE using chemical clamp and characterized by direct sequencing. Possible consequence on RNA splicing has to be examined.
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Contributors
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Chomel J-C,
Baudis M,
Kitzis A
1995-08-23
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Institute
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Laboratoire de Génétique Cellulaire et Moléculaire,
Poitiers, France
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Submitted Phenotype Details
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The mutation was identified in a 8 years old female with bowel hyperechogenicity. The other mutation was not identified.(pers. corr. Kitzis)
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Reference
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Chomel 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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