Mutation Details for c.1680-99T>C
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cDNA Name
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c.1680-99T>C
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Exon or Intron
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intron 12
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Legacy Exon or Intron
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intron 11
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1812-99 T->C
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Other Details
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This heterozygous change has been found in an Indian patient with idiopathic chronic pancreatitis.
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Contributors
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Khajuria R, Kabra M, Garg P.K, Shastri S
2007-11-12
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Institute
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Genetic Unit, Dept. of Pediatrics And Dep. of Gastroenterology,
All India Institute of Medical Sciences,
New Delhi(INDIA)
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Submitted Phenotype Details
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This patient (22yrs/M) was diagnosed with chronic pancreatitis at the age of 19 years. 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 to be negative for common dF508 and intron 19 mutations of CFTR gene. He was also negative for mutations of PRSS1 gene involved in chronic pancreatitis. This patient was found to be homozygous for common N34S mutation of SPINK1 gene involved in chronic pancreatitis.
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Reference
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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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