Mutation Details for c.1175T>C
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cDNA Name
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c.1175T>C
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Protein Name
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p.Val392Ala
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Exon or Intron
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exon 9
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Legacy Exon or Intron
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exon 8
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V392A
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Other Details
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The above sequence alteration was detected by DGGE using chemical clamps and
identified by direct sequencing. V392A was found in a patient presented with congenital
absence of vas deferens and [delta]F508 on his other chromosome; it was not found in 100
other non-[delta]F508 CF chromosomes and 100 non-CF chromosomes tested.
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Contributors
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Bienvenu T,
Bousquet S,
Herbulot C,
Beldjord C,
Kaplan J C
1995-12-15
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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, is PS, has normal lung function. He carries delF508 on the other allele.
(pers.corr. Bienvenu)
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Reference
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Bienvenu et al (NL#67, NL#68)
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