Mutation Details for c.4163T>A
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cDNA Name
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c.4163T>A
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Protein Name
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p.Leu1388Gln
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Exon or Intron
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exon 26
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Legacy Exon or Intron
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exon 23
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L1388Q
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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 L1388Q and [delta]F508.
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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, 39) was diagnosed at 37 with CBAVD. He is PS; DeltaF508 was found 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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