Mutation Details for c.853A>T
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cDNA Name
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c.853A>T
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Protein Name
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p.Ile285Phe
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Exon or Intron
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exon 7
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Legacy Exon or Intron
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exon 6b
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I285F
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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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Patient is a one year old male of Hispanic-African American descent presenting with chronic respiratory problems. The second mutation was not identified. He also carries a polymorphism 1497G>A within exon 9.
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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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