Mutation Details for c.3061C>G
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cDNA Name
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c.3061C>G
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Protein Name
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p.Pro1021Ala
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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P1021A
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Other Details
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Contributors
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Tzetis M.,
2002-01-01
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Institute
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Department of Medical Genetics University of Athens St Sophia's Children's Hospital
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Submitted Phenotype Details
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The patient (male, 10 years) was diagnosed at 4 months of age. He is PI, FEV1 was 90% and sweat chloride 86.4 mmol/l. He has Haemophilus Influenzae and Pseudomonas Aeruginosa infections. He carries deltaF508 on the other allele. (pers.corr. Tzetis)
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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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