Mutation Details for c.3458T>A
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cDNA Name
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c.3458T>A
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Protein Name
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p.Val1153Glu
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Exon or Intron
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exon 21
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Legacy Exon or Intron
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exon 18
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V1153E
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Other Details
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The above mutation was found once in a sample of 50 German CBAVD patients. The patient was heterozygous for V1153E and for 3272-26A->G.
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Contributors
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Dörk T,
Stuhrmann M,
Horst J,
Dworniczak B
1996-03-15
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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, 36) was diagnosed at 34 with CBAVD. He is PS. He carries 3272-26A->G on the other allele.
(pers. corr. Doerk)
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Reference
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Dörk et al. (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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