Mutation Details for c.2735C>A
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cDNA Name
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c.2735C>A
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Protein Name
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p.Ser912X
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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S912X
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Other Details
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This mutation was identified by direct sequencing and DGGE.
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Contributors
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Leoni GB,
Rosatelli MC,
Saba L,
Meloni ,
Cao A
1993-01-03
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Institute
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Istituto di Clinica e Biologia dell'eta Evolutiva
U Cagliari, Italy
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Submitted Phenotype Details
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The mutation was found in a 15 year old male patient diagnosed at 7 years of age, carrying 2183AA->G on the other allele.He is PI, has severe pulmonary symptoms and high sweat chloride. (pers corr. Rosatelli)
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Reference
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Leoni et al (NL #54
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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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