Mutation Details for c.3964-3C>G
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cDNA Name
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c.3964-3C>G
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Exon or Intron
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intron 24
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Legacy Exon or Intron
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intron 21
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4096-3C->G
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Other Details
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This mutation was found by DGGE and identified by direct sequencing in a homozygous patient from a Lebanese family.
It creates a Mnl I restriction site.
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Contributors
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Claustres M,
Guittard C,
Desgorges M,
Carles S
1997-01-06
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Institute
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Institut de Biologie Montpellier
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Submitted Phenotype Details
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The mutation was identified in a 4 months patient, who died at that age, with hepatic failure. She was PI, had severe lung disease with PA colonization and sweat chloride 50 mmol/l. No other mutation was identified. (pers. corr. Claustres)
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Reference
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Claustres 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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