Mutation Details for c.2556T>G
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cDNA Name
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c.2556T>G
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Protein Name
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p.Tyr852X
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Exon or Intron
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exon 15
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Legacy Exon or Intron
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exon 14a
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Y852X
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Other Details
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Contributors
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Bulman M, Brownsell E, Schwarz MJ.
2008-07-24
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Institute
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Regional Molecular Genetics Laboratory
St Mary’s Hospital, Manchester, England
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Submitted Phenotype Details
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The mutation was found in homozygous form in a Pakistani boy who is the issue of a consanguineous marriage. He also has an affected sister. We do not have any clinical information.No further sequence changes were found after sequencing the entire coding region of the gene and performing MLPA for larger deletions and duplications.
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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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