Mutation Details for c.400A>G
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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.400A>G
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Protein Name
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p.Arg134Gly
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Exon or Intron
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Other Details
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Contributors and Institutes
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| Hongxia Shao,Tianjin university Haihe Hospital，Tianjin Province,China. | - | |
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Submitted Phenotype Details
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compound heterozygous CFTR mutation (c.400A>G p.Arg134Gly and c.3484C>T p.Arg1162*) resulted CF in the family
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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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