Mutation Details for c.2908G>A
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cDNA Name
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c.2908G>A
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Protein Name
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p.Gly970Ser
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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G970S
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Other Details
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This mutation was detected by DHPLC analysis followed by direct sequencing. This mutation was found in one CF patient of Egyptian origin who carried the F508 del on the second CF allele
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Contributors
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Seia M, Porcaro L., Colombo C., Russo M.C.
2006-09-21
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Institute
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Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena
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Submitted Phenotype Details
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The individual (male, 1 year) was diagnosed as CF in the first month of life due to positive neonatal screening. His sweat test were 103.48 and 99.01 mEq/l. No respiratory symptoms, pancreatic insufficiency and normal growth at 11 months.
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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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