Mutation Details for c.3382A>T
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cDNA Name
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c.3382A>T
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Protein Name
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p.Arg1128X
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Exon or Intron
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exon 21
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Legacy Exon or Intron
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exon 18
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R1128X
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Other Details
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R1128X was found during a pregnancy in a fetus suspected of having CF according to anomalies observed by scan. The nucleotide substitution creates a FokI site and abolishes a EarI site. The other mutation was [delta]F508.
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Contributors
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Ghanem N,
Girodon E,
Flori J,
Goossens M
1996-03-22
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Institute
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Hopital Henri Mondor,
Creteil, France
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Submitted Phenotype Details
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The R1128X mutation was found in a 7 y male CF patient diagnosed at birth, also carrying deltaF508 on the other allele. 1additional patient, genotype R1128X/W1098X, is PI and has severe lung disease. (pers. corr. Girodon)
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Reference
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Ghanem et al. (NL#68)
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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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