Mutation Details for c.2173G>A
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cDNA Name
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c.2173G>A
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Protein Name
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p.Glu725Lys
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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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E725K
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Other Details
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This mutation was detected by DGGE and direct sequencing.
E725K was found in one female CF patient of Greek origin (1/500chromosomes); her other mutation is unknown.
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Contributors
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Tzetis M,
Antoniadi Th,
Kanavakis E
1998-02-02
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Institute
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St. Sophia's Children's Hospital,
Athens, Greece
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Submitted Phenotype Details
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Patient (F) is an adult, has PS, mild lung disease and sweat chloride levels of 60mEq/l.
The other mutation is unknown.
(Pers. corr. Tzetis)
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Reference
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Tzetis et al. (NL#70)
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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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