Mutation Details for c.3038C>A
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cDNA Name
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c.3038C>A
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Protein Name
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p.Pro1013His
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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P1013H
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Other Details
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This mutation was identified in one patient carrying the R352W mutation on the other chromosome. No other mutation was detected after a wide CFTR gene mutation screening (27 exons and intronic boundaries) by DHPLC methodology.
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Contributors
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Bieth E., Gaston V., Le Tallec C.
2003-05-15
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Institute
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Laboratoire de GŽnŽtique MŽdicale; H™pital Purpan; CHU de Toulouse (France)
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Submitted Phenotype Details
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The patient (French origin) was referred at age 13 months for failure to thrive and steatorrhea indicative of pancreatic insufficiency. He had no sign of lung disease at this age. Sweat chloride values were intermediate (Cl- = 40-45 mEq/l).
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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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