Mutation Details for c.4364C>G
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cDNA Name
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c.4364C>G
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Protein Name
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p.Ser1455X
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Exon or Intron
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exon 27
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Legacy Exon or Intron
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exon 24
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S1455X
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Other Details
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The S1455X mutation was detected in Iranian CF patient with an atypical phenotype. This mutation is compounded with another yet unidentified CF allele.
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Contributors
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Macek MJr,
Mackova A,
Sedriks SE,
Cutting GR
1994-03-21
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Institute
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Center for Medical Genetics
Baltimore, MD, USA
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Submitted Phenotype Details
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Two patients, both females, 9 and 46 years old, both PS, FEV1 above 90% and sweat chloride 70-85 mmol/l. Both have del14a on the other allele.
(pers. corr. Macek)
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Reference
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Macek M Jr 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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