Mutation Details for c.3790_3799delGAAGGAGAAA
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cDNA Name
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c.3790_3799delGAAGGAGAAA
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Protein Name
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p.Glu1264SerfsX11
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Exon or Intron
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exon 23
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Legacy Exon or Intron
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exon 20
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3922del10->C
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Other Details
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This complex mutation deletes 10 bp and replaces with one C residue. The net result is an in-frame deletion of 3 whole codons (1264-1266).
The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in a boy whose other CF mutation was [delta]F508. The patient was referred by West Midlands Regional Genetics Service for rare mutation testing. We have seen it only once in over 150 non-[delta]F508 chromosomes tested.
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Contributors
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Schwarz M.
Malone G,
Haworth A
1996-06-24
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Institute
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Royal Manchester Children's Hospital,
England.
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Submitted Phenotype Details
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The male patient also carries Deltaf508 on the other allele.
(pers.corr.Schwarz)
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Reference
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Schwarz et al. (NL#69)
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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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