Mutation Details for c.744-10_744-3del
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cDNA Name
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c.744-10_744-3del
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Exon or Intron
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intron 6
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Legacy Exon or Intron
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intron 6a
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876-10del8
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Other Details
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The deletion, of at least 8 nucleotides (because the precise number of TTGA repeats on the allele cannot be determined) is to be considered as a splice mutation (T replaced by G at position 2 of the splice junction consensus). The mutation was detected by DGGE analysis and identified by direct sequencing.
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Contributors
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Costes B,
Martin J,
Ghanem N
Goossens M
1992-05-27
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Institute
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Laboratoire de Biochimie
Creteil, France
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Submitted Phenotype Details
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876-10del8 was found in a 39y male patient diagnosed at 28y with CBAVD. He is PS and also carries 1342-6(5T) on the other allele. (pers. corr. Girodon)
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Reference
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Costes et al. (NL#46,47)
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