Mutation Details for c.3125A>G
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.3125A>G
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Protein Name
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p.Gln1042Arg
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Exon or Intron
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Other Details
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Contributors and Institutes
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| Division of Gastroenterology | - | Johns Hopkins Medical Institutions, Baltimore, MD |
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Submitted Phenotype Details
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29-year-old male of Indian origin
acute recurrent and chronic calcific pancreatitis since age of 18 years
symptoms and/or findings of cystic fibrosis (eg, recurrent sinopulmonary infections, infertility, etc)
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Reference
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PMID:24326373
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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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