Mutation Details for c.647G>A
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cDNA Name
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c.647G>A
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Protein Name
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p.Trp216X
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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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W216X
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Other Details
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The mutation was found by using SSCP analysis and direct sequencing.
It was detected in one of the CFTR alleles of a single Japanese patient with CBAVD. The patient has another mutation Q1352H in the other allele.
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Contributors
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Yoshimura K
1999-03-15
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Institute
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Department of Gene Therapy
Institute of DNA Medicine,
Jikei University School of Medicine,
Tokyo, Japan
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Submitted Phenotype Details
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The mutation was found in a 31 years old male patient with CBAVD, who is PS with no lung disease. (pers. corr. Yoshimura)
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Reference
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Yoshimura 1999
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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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