Mutation Details for c.2988+45A>G
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cDNA Name
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c.2988+45A>G
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Exon or Intron
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intron 18
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Legacy Exon or Intron
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intron 16
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3120+45A/G
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Other Details
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The mutation was also identified by Ferec et al. (pers. corr. Ferec 2002)
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Contributors
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Andrew N,
Malone G,
Brownsell E,
Schwarz M
2000-10-19
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Institute
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Royal Manchester Children's Hospital
England
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Submitted Phenotype Details
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The mutation was also found by Ferec et al, pers. corr. Ferec 2002. No additional clinical information available.
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Reference
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Andrew et al. 2000
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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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