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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Other Details
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First patient: The above mutation was identified by SSCP analysis and characterized by direct DNA sequencing. The mutation was not found on 100 non-CF chromosomes.
Another patient: This Heterozygous change has been found in an Indian Patient with Chronic Pancreatitis.
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Contributors and Institutes
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| Prasad R | - | Postgraduate Institute of Medical Education and Research, Chandigarh, India. | | Singh M | - | Postgraduate Institute of Medical Education and Research, Chandigarh, India. | | Kaur G | - | Postgraduate Institute of Medical Education and Research, Chandigarh, India. | | Sharma N | - | Postgraduate Institute of Medical Education and Research, Chandigarh, India. | | Khajuria R | - | Genetic Unit, Dept. of Pediatrics, And Dept. of Gastroenterology,All India Institute of Medical Sciences,New Delhi (INDIA) | | Kabra M | - | Genetic Unit, Dept. of Pediatrics, And Dept. of Gastroenterology,All India Institute of Medical Sciences,New Delhi (INDIA) | | Garg P.K. | - | Genetic Unit, Dept. of Pediatrics, And Dept. of Gastroenterology,All India Institute of Medical Sciences,New Delhi (INDIA) | | Shastri S | - | Genetic Unit, Dept. of Pediatrics, And Dept. of Gastroenterology,All India Institute of Medical Sciences,New Delhi (INDIA) |
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Submitted Phenotype Details
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The chief complaint of this 13 yrs old female patient was recurrent cough for the last five years. Her sweat chloride level was 64 mEq/L; and percentage predicted FVC and FEV1 were 51% and 52% respectively. Chest X-ray showed bilateral middle zone infiltrates (pers. corr. Prasad).
Another patient: This patient (29Yr/M) was diagnosed with Chronic Pancreatitis at the age of 27 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 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 reported to have Sequence Variations (1540 A>G and 1525-61 A>G) of exon 10 and intron 9 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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