Mutation Details for c.889C>T
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cDNA Name
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c.889C>T
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Protein Name
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p.Arg297Trp
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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R297W
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Other Details
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Missense mutation R297W was identified in a Vietnamese CBAVD patient who is heterozygous for R297W and for the 5T allele. Both chromosomes also carry the Q1352H missense variant in exon 22.
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Contributors
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Dörk T,
Frye H,
Stuhrmann M
1997-06-20
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Institute
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Medizinische Hochschule Hannover,
Hannover, Germany
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Submitted Phenotype Details
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One male patient with CBAVD, carrying the 5T mutation on the other allele, he is PS.
(pers. corr. Doerk)
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Reference
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Dörk et al. (NL#69)
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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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