Mutation Details for c.1392+4g>T

cDNA Name c.1392+4g>T 
Exon or Intron intron 10 
Other Details This heterozygous change has been found in an Indian Patient with Chronic Pancreatitis. 
Contributors and Institutes
Khajuria R. - Genetic Unit, Dept. of Pediatrics, & Dept. of Gastroenterology, All India Institute of Medical Sciences, New Delhi, INDIA
Shashtri S. - Genetic Unit, Dept. of Pediatrics, & Dept. of Gastroenterology, All India Institute of Medical Sciences, New Delhi, INDIA
Garg P.K. - Genetic Unit, Dept. of Pediatrics, & Dept. of Gastroenterology, All India Institute of Medical Sciences, New Delhi, INDIA
Kabra M. - Genetic Unit, Dept. of Pediatrics, & Dept. of Gastroenterology, All India Institute of Medical Sciences, New Delhi, INDIA
  
Submitted Phenotype Details This patient (32 Years old Male) was diagnosed with Idiopathic Chronic Pancreatitis at the age of 30 yrs. As CFTR gene is also involved in Chronic Pancreatitis so this patient was screened for mutations of CFTR gene by SSCP. This patient was also having other CFTR variant p V456A in exon 9. This patient was found to be negative for common mutation of SPINK1 and PRSS1 gene involved in pancreatitis.  
Reference  

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The Database was last updated at Apr 25, 2011