Mutation Details for c.958T>G
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cDNA Name
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c.958T>G
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Protein Name
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p.Leu320Val
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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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L320V
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Other Details
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The above mutation was detected by DGGE using chemical clamps and identified by direct sequencing. It is not found in 100 other non-[delta]F508 CF chromosomes and 100 non-CF chromosomes tested. The patient is presented with congenital absence of vas deferens and has [delta]F508 on the other chromosome.
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Contributors
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Bienvenu T,
Bousquet S,
Herbulot C,
Beldjord C,
Kaplan J C
1995-10-06
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Institute
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Groupe Hôspitalier Cochin,
Paris
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Submitted Phenotype Details
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One patient, male, diagnosed with CBAVD, no pulmonary symptoms, PS. R117H on the other allele. (pers.corr. Bienvenu)
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Reference
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Bienvenu et al (NL#67)
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