Mutation Details for c.3095A>G
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cDNA Name
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c.3095A>G
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Protein Name
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p.Tyr1032Cys
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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Y1032C
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Other Details
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Mutation Y1032C was identified in a German CBAVD patient who is heterozygous for Y1032C and for the [delta]F508 deletion.
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Contributors
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Dörk T,
Hughes D,
Dworniczak B,
Stuhrmann M
1997-01-30
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Institute
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Institut fur Humangenetik,
Medizinische Hochschule Hannover
Hannover, Germany
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Submitted Phenotype Details
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The patient (male) was diagnosed at 34 with CBAVD. He is PS and carries DelF508 on the other allele.
(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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