Mutation Details for c.1704G>T
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cDNA Name
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c.1704G>T
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Protein Name
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p.Leu568Phe
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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L568F
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Other Details
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L568F was found in a heterozygous CBAVD patient with yet unidentified mutations on their other alleles.
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Contributors
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Dörk T,
Schmidtke J,
Stuhrmann M
1996-10-06
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Institute
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Insitut fur Humangenetik, Medezinische Hochschule Hannover,
Hannover, Germany.
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Submitted Phenotype Details
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One male patient, PS, diagnosed with CBAVD, carrying D1152H on the other allele.
(pers.corr.Dork)
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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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