Mutation Details for c.3139+8A>G
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cDNA Name
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c.3139+8A>G
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Exon or Intron
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intron 19
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Legacy Exon or Intron
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intron 17a
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3271+8A>G
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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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This is a 16 year old male of Chilean origin with borderline sweat chloride test. The second mutation was not found.
Further mRNA studies are required to confirm the splicing defect
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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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