Mutation Details for c.2280G>A
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cDNA Name
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c.2280G>A
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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2412G/A
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Other Details
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This Heterozygous change has been found in an Indian Patient with Chronic Pancreatitis.
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Contributors
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Khajuria R, Kabra M, Garg P.K, Shashtri S
2006-09-18
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Institute
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Genetic Unit, Dept. of Pediatrics,
Dept. of Gastroenterology,
All India Institute of Medical Sciences,
New Delhi, INDIA
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Submitted Phenotype Details
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This patient (15Yr/M) was diagnosed with Chronic Pancreatitis at the age of 9years. 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 Delta F508 and Intron 19 mutations of CFTR gene. This patient was also found negative for common mutations of other genes (SPINK1, PRSS1) involved in Chronic Pancreatitis. This patient was also having reported S.V (P1290P, 4002 A>G) of Exon 20 of CFTR gene.
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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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