Mutation Details for c.202A>G
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cDNA Name
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c.202A>G
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Protein Name
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p.Lys68Glu
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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K68E
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Other Details
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This mutation was found in a male Turkish patient (first reported Aug 4, 1997). His sweat chloride was 60 meq/l and showed lung disease at age of 26 months. His other CF mutation was later reported to be 406+3T->C (on March 23, 1998).
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Contributors
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Kilinc O,
Ankan Z,
Altmos S,
Tolun A
1997-08-12
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Institute
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Bogazici University
Istanbul, Turkey
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Submitted Phenotype Details
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The patient (12, male) was diagnosed at 14 months, is PS, has mild lung disease and sweat chloride 60 mmol/l. He carries 406-3T->C on the other allele.
(pers. corr. Kilinc)
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Reference
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Kilinc 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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