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Detailed info
| Owner: | admin | Position: | exon 8 | HAEUID: | 102 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16788C>T | Traditional: | Arg444Cys | ||
| HUGO: | g.17970C>T | HUGO: | p.Arg466Cys | ||
| CDS: | c.1396C>T | Effect: | pathogenic | ||
| Reference: | Skriver K et al (J Biol Chem. 1989 Feb 25;264(6):3066-71.) | ||||
| Family history: | unknown | No. of cases: | 0 | ||
| Notes: | ND Note of admin (2003-10-15): Also described by Nielsen EW et al. (Scand J Immunol. 1998;47:273-6.) 9519866 Note of tordai-lab (2004-03-07): Also found in 3 unrelated Hungarian families (Kalmar L et al (Hum Mutat 2003 Dec;22(6):498);14635117) |
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