Mutation Details for c.2909-15T>G
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cDNA Name
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c.2909-15T>G
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Exon or Intron
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intron 17
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Legacy Exon or Intron
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intron 15
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3041-15T->G
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Other Details
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This mutation was detected in the homozygous state in a Turkish CBAVD patient.
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Contributors
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Dayangac D,
Erdem H,
Özgüc M,
Dörk T
2001-10-21
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Institute
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Dept. of Medical Biology Hacettepe University,
Sihhiye, Turkey
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Submitted Phenotype Details
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The homozygous patient (male, 42y) was diagnosed with CBAVD.(pers. corr. Dayangac)
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Reference
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Dayangac et al. 2001
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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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