Mutation Details for c.3140G>A
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cDNA Name
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c.3140G>A
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Protein Name
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p.Gly1047Asp
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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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G1047D
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Other Details
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The above mutation was detected by direct sequencing in a CBAVD patient. It is not found in 58 normal chromosomes in fathers of CF patients nor in 150 random control CFTR alleles by dot blot analysis.
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Contributors
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Teng H,
Messiaen L,
Cuppens H,
Cassiman J-J
1996-04-02
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Institute
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Center for Human Genetics,
Leuven, &
Ctr Med Gen,
Ghent, Belgium
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Submitted Phenotype Details
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The mutation was identified in a CBAVD patient. (pers. corr. De Boeck)
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Reference
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Teng 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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