Mutation Details for c.463G>C
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cDNA Name
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c.463G>C
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Protein Name
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p.Ala155Pro
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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A155P
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Other Details
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The mutation was detected by heteroduplex analysis of a 6 month-old Polish CF patient. She had high sweat chloride (130 meq/l), pancreatic insufficiency, mild lung disease, and hypochloremia diarrhea. Her presumed genotype is 3171insA/A155P.
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Contributors
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Zielenski J,
Aznarez I,
Tsui L-C,
Bal J,
Mazurczak T
1997-11-12
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Institute
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The Hospital for Sick Children,
Toronto, Canada
Institute for Mother and Child,
Warsaw, Poland
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Submitted Phenotype Details
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The mutation was found in a 6 month-old female Polish CF patient. She had high sweat chloride (130 meq/l), is PI, has mild lung disease, and hypochloremia and diarrhea. She carries 3171insA on the other allele. (pers. corr. Zielenski)
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Reference
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Zielenski et al. (NL#70)
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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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