Mutation Details for c.224G>T
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cDNA Name
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c.224G>T
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Protein Name
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p.Arg75Leu
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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R75L
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Other Details
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The mucleotide change G->T at position 356 (codon 75 in exon 3) has been found in an infertile man with CBAVD having no manifestation of gastrointestinal or pulmonary disease. He carries the [delta]F508 mutation on the other chromosome.
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Contributors
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Costes B,
Ghanem N,
Goossens M
1990-05-05
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Institute
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Unite de Recherches en Genetique Moleculaire et en Hematologie
Creteil, France
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Submitted Phenotype Details
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The R75L mutation was found in a 42y male diagnosed with CBAVD at 33y carrying F508del on the other allele. (pers. corr. Girodon)
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Reference
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Costes et al. (NL#55)
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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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