Mutation Details for c.1714G>C

cDNA Name c.1714G>C 
Protein Name p.Asp572His 
Exon or Intron exon 13 
Other Details  
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 (19Year/M) was diagnosed with Idiopathic Chronic Pancreatitis at the age of 9 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 found negative for Common DeltaF508 and intron 19 mutation of CFTR gene and common p. R122H and p. N29I mutation of PRSS1 gene. This patient was also homozygous for p. N34S mutation of SPINK1 gene involved in Chronic Pancreatitis. This patient was also carrying other sequence variation c. 1812-99 C>T in of CFTR gene.  
Reference  

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The Database was last updated at Apr 25, 2011