Mutation Details for c.870-7_870-5delTTT

Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name c.870-7_870-5delTTT 
Exon or Intron intron 7 
Other Details  
Contributors and Institutes
Shastri S - Genetics Unit, Pediatrics Department, All India Institute of Medical Sciences, New Delhi and St Mary’s Hospital, Manchester.
Kabra M - Genetics Unit, Pediatrics Department, All India Institute of Medical Sciences, New Delhi and St Mary’s Hospital, Manchester.
Kabra S K - Genetics Unit, Pediatrics Department, All India Institute of Medical Sciences, New Delhi and St Mary’s Hospital, Manchester.
Wallace A - Genetics Unit, Pediatrics Department, All India Institute of Medical Sciences, New Delhi and St Mary’s Hospital, Manchester.
  
Submitted Phenotype Details Patient 1 was a 51-year-old male with chronic pancreatitis. He was heterozygous for this change. Patient 2 was a Four and a half year old female child with predominantly gastrointestinal symptoms including rectal prolapse. She was homozygous for this change. 
Reference  

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The Database was last updated at Apr 25, 2011