Mutation Details for c.2044_2045insC
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cDNA Name
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c.2044_2045insC
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Protein Name
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p.Gln685ThrfsX4
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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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2176insC
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Other Details
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This insertion was identified in one Bulgarian CF chromosome.
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Contributors
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Savov A,
Angelicheva D,
Jordanova A,
Kalaydjieva L
1994-02-25
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Institute
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null
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Submitted Phenotype Details
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The mutation was found in a Bulgarian CF patient (male, 11y) diagnosed at 3 months of age. He is PI, has severe lung disease with PA and Staph Aureus colonmization and sweat chloride of 87 mmol/l. The other mutation is unknown. (pers. corr. Savov)
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Reference
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Savov et al. (NL#61)
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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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