Mutation Details for c.2916_2917delTCinsAT
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cDNA Name
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c.2916_2917delTCinsAT
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Protein Name
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p.Leu973Phe
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Exon or Intron
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exon 18
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Legacy Exon or Intron
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exon 16
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L973F
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Other Details
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L973F was found in a German CBAVD patient heterozygous for this mutation and the 2789+5G->A mutation.
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Contributors
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Dörk T,
Stuhrmann M
1996-04-29
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Institute
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Medizinische Hochschule,
Hannover, Germany
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Submitted Phenotype Details
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The patient (male) is PS and diagnosed with CBAVD. He carries 2789+5G->A on the other allele.
(pers.corr. Doerk)
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Reference
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Dörk and Sturhmann (NL#68)
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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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