Mutation Details for c.3000_3014delTGTGATTGGAGCTAT
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.3000_3014delTGTGATTGGAGCTAT
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Protein Name
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p.Val1001_Ile1005del
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Exon or Intron
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Other Details
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Mutation found bz NGS CFTR Devyser kit, confirmed with sanger sequencing
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Contributors and Institutes
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Submitted Phenotype Details
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Deletion found in ukrainian patient, with F508del on the second allele.
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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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