Mutation Details for c.3074C>A
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cDNA Name
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c.3074C>A
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Protein Name
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p.Ala1025Asp
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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A1025D
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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 a non-febrile generalized tonic clonic seizure. The other allele carried a frameshift mutation, 4330delTG which has been previously reported (as 4332delTG) in a pancreatic sufficient patient from Southern France.
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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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