Mutation Details for c.3276C>G
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cDNA Name
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c.3276C>G
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Protein Name
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p.Tyr1092X
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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Y1092X(C->G)
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Other Details
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A new mutation in exon 17b was identified by SSCP and subsequent sequencing. The mutation is a C->G substitution in nucleotide 3408 (Y1092X C->G). Another mutation of this nucleotide was previously identified by Bozon et al. The Y1092X C->G mutation was identified in a CF patient with PI homozygous for haplotype C. This patient is homozygous for the mutation. Her parents are second degree cousins of Jewish Egyptian origin. The mutation destroys an Rsal site. We have tested 56 CF chromosomes carrying unknown mutations and did not reveal any additional positive.
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Contributors
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Shoshani T,
Kerem B
1994-05-24
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Institute
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The Hebrew University of Jerusalem
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Phenotype Information
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CFTR2
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Reference
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Shoshani & Kerem (NL#62)
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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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