Mutation Details for c.3067_3072delATAGTG
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cDNA Name
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c.3067_3072delATAGTG
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Protein Name
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p.Ile1023_Val1024del
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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3199del6
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Other Details
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This in-frame deletion was found associated with I148T on the same CF allele.
This mutation was also reported by Wang et al.(12/11/98). It was detected by TTGE (Temporal Temperature Gel Electrophoresis) and identified by direct sequencing.
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Contributors
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Bozon D
1998-03-19
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Institute
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Hopital Debrousse,
Lyon, France
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Submitted Phenotype Details
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The mutation was identified in 2 patients, one of them being female, diagnosed at 1 year old, PI with sweat chloride 114mmol/l and her genotype is I148T,3199del6/deltaF508. (pers. corr. Bozon)
The mutation was found in a 21 years old male CF patient diagnosed at 15 years of age. He is PI, FEV1 24% at age 22y, sweat chloride 102 mmol/l. He also has Diabetes melitus, Pseudomonas and E.coli colonization. (pers. corr. Alper and Wong et al. 2001)
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Reference
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Bozon (NL#70)
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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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