Mutation Details for c.3142A>G
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cDNA Name
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c.3142A>G
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Protein Name
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p.Arg1048Gly
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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R1048G
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Other Details
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The mutation was detected by DGGE analysis and characterized by direct sequencing.
We have seen it only once, in over 2100 control chromosomes from Italian population.
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Contributors
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Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.
2006-07-11
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Institute
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Lab. Genetica Molecolare Dip Pediatria, Padova, Italy
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Submitted Phenotype Details
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The change was found in the asymptomatic husband of a CF carrier (sister of a CF patient). The couple, origin from Germany, have a daughter (1 y) R1162X/R1048G with a negative sweat chloride test, further clinical information is not available.
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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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