Mutation Details for c.2061_2062insTTTT
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cDNA Name
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c.2061_2062insTTTT
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Protein Name
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p.Lys688PhefsX?
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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2193ins4
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Other Details
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This insertion was found by DGGE followed by sequencing of both the strands.This mutation was identified in a CF patient from Puglia region of Southern Italy.The patient has [delta]F508 mutation on the other chromosome.
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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 22year old male patient was diagnosed at 2 years (sweat cloride: 119mEq/L). He shows a PI and a moderate pulmonary expression (current FEV1: 62% of predicted) and no liver expression.(pers. 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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