Mutation Details for c.1810A>C
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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.1810A>C
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Protein Name
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p.Thr604Pro
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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.1810A>C (p.Thr604Pro) was found along with c.1657C>T (p.Arg553* ) on the other allele in a 8y M diagnosed as CF with bronchiectasis and positive sweat chloride. He was diagnosed with nasal polyposis.
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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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