Mutation Details for c.1610_1611delAC
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cDNA Name
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c.1610_1611delAC
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Protein Name
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p.Asp537GlufsX30
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Exon or Intron
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exon 12
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Legacy Exon or Intron
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exon 11
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1742delAC
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Other Details
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This mutation was detected in an 8 year-old Japanese CF patient by direct DNA sequencing. The patient has meconium ileus, pancreatic insufficiency, elevated sweat chloride concentration (153 meq/l) and pulmonary disease. He carries the A allele of 1525-18G/A polymorphism.
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Contributors
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Abo W,
Seki K,
Yamamoto Y
1998-03-05
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Institute
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Aomori Central Hospital, Aomori, and
JCR Pharmaceuticals Co, Kobe,
Japan
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Submitted Phenotype Details
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The patient (male, 14 years and 8 months) was diagnosed at 8 years and 6 months. He had meconium ileus, is PI, has sweat chloride 153 mmol/l and FEV1 56%. He carries 1525-18G/A on the other allele. (pers. corr. Abo)
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Reference
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Abo et al. (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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