Mutation Details for c.3468+2T>C
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cDNA Name
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c.3468+2T>C
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Exon or Intron
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intron 21
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Legacy Exon or Intron
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intron 18
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3600+2T->C
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Other Details
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This sequence variation was detected by DGGE and identified by direct sequencing. This splice mutation 3600+2T->C was not found in 100 other non-[delta]F508 CF chromosomes and 500 non-CF chromosomes tested.
This mutation was observed in a male subject with congenital bilateral absence of the vas deferens. The chloride sweat test was normal (40 mM), but the patient had abnormal nasal potential difference. The other mutation is unknown.
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Contributors
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Bienvenu T,
Bousquet S,
Souville I
2000-11-01
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Institute
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Laboratoire de Biochimie Génétique
Groupe Hôspitalier Cochin,
France
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Submitted Phenotype Details
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Reference
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Bienvenu et al. 2000
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