Mutation Details for c.509G>A
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cDNA Name
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c.509G>A
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Protein Name
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p.Arg170His
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Exon or Intron
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exon 5
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Legacy Exon or Intron
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exon 5
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R170H
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Other Details
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This mutation was seen in a 48 year-old male being investigated for infertility whose other CF mutation is [delta]F508. We have seen this mutation only once in over 200 CF chromosomes screened.(Original Note 27March2001)
Reported by Jennifer King (University of Iowa. 22/03/2002):
It was also found in a 12 year old male patient who was seen for genetic evaluation following discovery of CBAVD (during a hydrocele repair operation). It turned out that he has a [delta]F508 mutation and a R170H mutation. His sweat test was normal.
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Contributors
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Brownsell E,
Malone G,
Patel V,
Schwarz M
2001-03-27
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Institute
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Royal Manchester Children's Hospital
England
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Submitted Phenotype Details
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2 patients, both with CBAVD, normal sweat chlorides, one of them born in 1950. Both have DelF508 on the other allele.
(pers. corr. Schwarz)
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Reference
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Brownsell et al. 2001
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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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