Mutation Details for c.338A>T
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cDNA Name
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c.338A>T
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Protein Name
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p.Asn113Ile
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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N113I
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Other Details
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The mutation was detected by DHPLC analysis and characterized by direct sequencing.
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Contributors
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CABET/BEY - OMAR F., PLOYE F., MOREL Y.,
2007-02-05
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Institute
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Lab. De Biologie Moleculaire et Endocrinienne Lyon France
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Submitted Phenotype Details
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N113I was found in a male patient with congenital absence of vas deferens. The F508del in on his other allele.
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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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