Mutation Details for c.650A>G
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cDNA Name
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c.650A>G
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Protein Name
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p.Glu217Gly
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Exon or Intron
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exon 6
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Legacy Exon or Intron
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exon 6a
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E217G
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Other Details
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The mutation was detected by heteroduplex analysis in a 2-year old male Polish patient with high sweat cloride (60-80 meq/l), pancreatic sufficiency, and moderate lung disease. His other CF mutation is unknown.
It was also found by Yoshimura in 1999, in the CFTR alleles of a single patient with diffuse panbronchiolitis who has Q1352 H in the other allele.
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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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No additional clinical info available. (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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