Mutation Details for c.3916_3917insCC
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cDNA Name
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c.3916_3917insCC
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Protein Name
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p.Tyr1307ProfsX22
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Exon or Intron
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exon 24
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Legacy Exon or Intron
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exon 21
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4048insCC
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Other Details
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This frameshift mutation, 4048insCC, creates a stop codon 61 bp downstream in exon 22. This mutation was observed in one English patient and was detected by SSCP/heteroduplex analysis followed by direct sequencing.
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Contributors
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Wallace A,
Tassabehji M
1993-08-04
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Institute
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St. Mary's Hospital
Manchester UK
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Submitted Phenotype Details
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Reference
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Wallace & Tassabehji M (NL#58)
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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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