Mutation Details for c.2739T>A
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cDNA Name
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c.2739T>A
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Protein Name
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p.Tyr913X
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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Y913X
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Other Details
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Contributors
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Iris Schrijver, Sudha Ramalingam,Ramalingam Sankaran,Steve Swanson,Charles Dunlop,Steven Keiles,Richard Moss,John Oehlert,Phyllis Gardner,E.Robert Wassman,Anja Kammesheidt
2006-03-16
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Institute
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Stanford School of Medicine, Stanford
Ambry Genetics Corporation, Irvine
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Submitted Phenotype Details
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A male neonate of European/Brazilian ancestry presented with meconium ileus at birth and severe pancreatic insuffiency. He had a borderline sweat chloride. He had deltaF508 on the other allele. He also had another missense variant in exon 17a, I1027T (3212T>C) which has been reported earlier. Family studies have not been performed to identify which allele carries two mutations.
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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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