Mutation Details for c.1635_1640del
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cDNA Name
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c.1635_1640del
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Protein Name
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p.Ile546_Thr547del
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Exon or Intron
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exon 12
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Legacy Exon or Intron
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exon 11
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1767del6
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Other Details
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Contributors
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Dayangac
2002-01-01
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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 mutation was identified in a 37 years old male with CBAVD. He is homozygous for 1767del6.(pers.corr. Dayangac)
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Reference
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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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