Mutation Details for c.1393-42G>A
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cDNA Name
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c.1393-42G>A
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Exon or Intron
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intron 10
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Legacy Exon or Intron
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intron 9
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1525-42G>A
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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 an 18 month old male with chronic lung disease hypoxia and pulmonary hypertension. No second variant was found. The novel variant was also found in a 9 year old with failure to thrive and a 6 month old child with clinical suspicion of CF.
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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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