Mutation Details for c.1219G>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.1219G>T
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Protein Name
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p.Glu407X
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Exon or Intron
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Other Details
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Contributors and Institutes
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Jingyi Sun | - | Xin Hua Hospital, Shanghai Jiao Tong University School of Medicine |
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Submitted Phenotype Details
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c.1219G>T(p.Glu407*) was found along with c.2551C>T (p.Arg851* ) on the other allele in a 3y F diagnosed as CF with bronchiectasis, sinusitis, recurrent pneumonia and malnutrition. She had meconium ileus during the neonatal period.
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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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