Mutation Details for c.869+3A>T
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cDNA Name
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c.869+3A>T
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Exon or Intron
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intron 7
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Legacy Exon or Intron
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intron 6b
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1001+3A>T
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Other Details
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This heterozygous mutation was identified in a patient of Thai origin.
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Contributors
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Iris Schrijver, Wikrom Karnasakul, Sudha Ramalingam, Ramalingam Sankaran, Richard Moss, Phyllis Gardner
2004-01-22
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Institute
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Stanford University School of Medicine, Stanford,
CA,USA
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Submitted Phenotype Details
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The patient is a 4 month old male infant who presented with hyponatremic hypochloremic metabolic alkalosis and pneumonia. The other allele carried another splice site mutation 405+1GàA, previously reported by Dork et al. in a 20 year old pancreatic insufficient male with a benign clinical course.
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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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