Mutation Details for c.1859A>C
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cDNA Name
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c.1859A>C
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Protein Name
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p.His620Pro
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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H620P
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Other Details
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The above mutation was detected by SSCP and identified by direct DNA sequencing. H620P was found in a 15-year old male CF patient who has mild CF and who is pancreatic sufficient. His parents were unavailable for testing but one is Caucasian and the other is Asian. His mother's mutation is R1158X, which this investigators have seen in one Arabic and one Greek patient. H620P was seen only once in 100 non-[delta]F508 chromosomes screened.
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Contributors
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Hawworth A,
Malone G,
Schwarz M
1995-07-10
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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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The mutation was found in a 15 years old male CF patient, with mild CF (is PS). The father is Pakistani. (pers. corr. Schwarz)
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Reference
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Haworth 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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