Mutation Details for c.3140-9A>T

cDNA Name c.3140-9A>T 
Exon or Intron intron 19 
Legacy Exon or Intron intron 17a 
Legacy Name 3272-9A->T 
Other Details The above mutation was detected by DGGE using chemical clamp and characterized by direct sequencing. Possible consequence on RNA splicing has to be examined. 
Contributors Chomel J-C, Baudis M, Kitzis A   1995-08-23
Institute Laboratoire de Génétique Cellulaire et Moléculaire, Poitiers, France 
Submitted Phenotype Details The mutation was identified in a 8 years old female with bowel hyperechogenicity. The other mutation was not identified.(pers. corr. Kitzis) 
Reference Chomel et al (NL#67) 

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The Database was last updated at Apr 25, 2011