Mutation Details for c.2252G>T
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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.2252G>T
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Protein Name
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p.Arg751Leu
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Exon or Intron
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Other Details
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p.Phe508del (c.1521_1523delCTT) in trans
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Contributors and Institutes
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error reading database
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Submitted Phenotype Details
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Infant, diagnosed on Newborn Screening. Probably pancreatic insufficient (malabsorption). Sweat chloride 73.
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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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