Mutation Details for c.280_286delACCAAAG
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cDNA Name
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c.280_286delACCAAAG
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Protein Name
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p.Thr94GlnfsX11
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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412del7->TA
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Other Details
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Mutation 412del7->TA is a complex mutation due to deletion in exon 4 of ACCAAAG from 412 and insertion of TA. It is responsible for a frameshift and creation of a stop codon downstream.
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Contributors
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Michel-Calemard L,
Bey Omar F,
Morel Y
1996-07-10
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Institute
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Service de Biochimie Endocrinienne et Moléculaire,
Hopital Debrousse
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Submitted Phenotype Details
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Reference
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Michel-Calemard 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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