Mutation Details for c.971C>T
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cDNA Name
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c.971C>T
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Protein Name
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p.Pro324Leu
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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P324L
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Other Details
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This mutation was identified in Polish infant during CF newborn screening program. The deltaF508 mutation in both CFTR alleles was also found. No other mutation was found after sequencing of exons: 7,10,11,13,21. Mutations 3849+10kbC>T, dele2,3(21kb) and R117H were also excluded.
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Contributors
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Norek A., Sobczynnska-Tomaszewska A., Wertheim K., Czerska K, Oltarzewski M., Sabds D., Bal J.
2008-09-16
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Institute
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Institute of Mother and Child, Department of Medical Genetics, Warsaw, Poland
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Submitted Phenotype Details
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Typical CF phenotype, Meconium ileus, IRT = 189.73[ug/l]
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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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