Mutation Details for c.535C>T
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.535C>T
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Protein Name
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p.Gln179X
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Exon or Intron
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Other Details
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A heterozygous p.Phe508del mutation had been previously identified using OLA, DNA from the parents was not available for segregation analysis.
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Contributors and Institutes
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error reading database
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Submitted Phenotype Details
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Male patient, age at diagnosis 6 1/2 ys. The family is of German origin. Negative family history, no consanguinity reported. Pathological sweat test and pancreatic insufficiency.
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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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