Mutation Details for c.1053_1054delTC
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cDNA Name
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c.1053_1054delTC
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Protein Name
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p.Arg352AlafsX11
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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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1185delTC
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Other Details
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This deletion was found by DGGE followed by sequencing of both the strands. This mutation was found in a patient originating from Puglia region of Southern Italy. The genotype of the patient is G1349D/1185delTC.
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Contributors
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Polizzi A., Santostasi T., Manca A., Logrillo V.P. and Rigillo N.
2004-06-16
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Institute
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Dipartimento di Biomedicina dellEtˆ Evolutiva-Laboratorio Fibrosi Cistica-Policlinico-Universitˆ degli Studi di Bari- Bari-ITALY
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Submitted Phenotype Details
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The patient is 12yr. old female diagnosed at 4mo. (sweat cloride 70mEq/L) with very mild pulmonary disease (current FEV1:92% of predicted), PS and very mild liver disease. (per. corr. Polizzi)
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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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