Mutation Details for c.473G>A
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cDNA Name
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c.473G>A
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Protein Name
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p.Ser158Asn
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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S158N
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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, Shastri S
2007-10-31
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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(29 Yr/M) was diagnosed with Chronic Pancreatitis at the age of 27 years. As CFTR gene is also involved in Chronic Pancreatitis, this patient was screened for mutations of CFTR gene by SCCP. This patient was found negative for Common [delta]F508 and intron19 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 reported to have sequence variations ( 1540 A/G and 1525-61 A/G) of exon10 and intron9 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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