Mutation Details for c.1860T>G
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cDNA Name
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c.1860T>G
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Protein Name
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p.His620Gln
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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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H620Q
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Other Details
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The H620Q mutation was identified in a German patient with mild CF and who is
heterozygous for this mutation and [delta]F508.
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Contributors
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Dörk T,
Stuhrmann M
1996-04-29
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Institute
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Medizinische Hochschule,
Hannover, Germany
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Submitted Phenotype Details
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The CF patient (male, 15y) was diagnosed at 12y6m,is PI, has recurrent respiratory infections and sweat chloride >100mmol/l.
(pers corr Doerk and Vankeerberghen et al. 1998)
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Reference
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Dörk and Sturhmann (NL#68)
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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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