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Detailed info
| Owner: | tordai-lab | Position: | exon 8 | HAEUID: | 136 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16885C>G | Traditional: | Pro476Arg | ||
| HUGO: | g.18067C>G | HUGO: | p.Pro498Arg | ||
| CDS: | c.1493T>A | Effect: | pathogenic | ||
| Reference: | Kalmar L et al (Hum Mutat 2003 Dec;22(6):498) | ||||
| Family history: | sporadic (negative) | No. of cases: | 0 | ||
| Notes: | - Not detected among 100 control chromosomes. - Disease-linked segregation in the family. - Highly conserved amino acid, significant amino acid change with polarity change - Disease causing mutation already described in this position (Pro476Ser) |
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