Mutation Details for c.3185T>A
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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.3185T>A
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Protein Name
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p.Leu1062Gln
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Exon or Intron
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Other Details
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Contributors and Institutes
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| Malgorzata Libik, Oleg Kvlividze, Milan Macek | - | |
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Submitted Phenotype Details
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Patient from Georgia CF (born 2003) suspected for CF. On the other allele detected mutation c.708dupT p. Gln237Serfs*21
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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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