Mutation Details for c.1397C>T
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cDNA Name
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c.1397C>T
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Protein Name
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p.Ser466Leu
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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S466L
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Other Details
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The above mutation was detected by DGGE and identified by direct sequencing in an infertile man with isolated CBAVD.
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Contributors
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Costes B,
Ghanem N,
Girodon E,
Goossens M
1995-04-04
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Institute
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Institut National de la Sante et de la Recherche Medicale
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Submitted Phenotype Details
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S466L was found in a 37y M patients diagnosed at >30y with CBAVD, PS, with mild pulmonary symptoms (chronic bronchitis), also carrying deltaF508 on the other allele.(pers. corr. Girodon)
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Reference
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Costes et al. (NL#66)
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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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