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Detailed info
| Owner: | tordai-lab | Position: | exon 8 | HAEUID: | 135 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16810T>A | Traditional: | Val451Glu | ||
| HUGO: | g.17992T>A | HUGO: | p.Val473Glu | ||
| CDS: | c.1418T>A | Effect: | pathogenic | ||
| Reference: | Kalmar L et al (Hum Mutat 2003 Dec;22(6):498) | ||||
| Family history: | sporadic (negative) | No. of cases: | 0 | ||
| Notes: | - Highly conserved amino acid, significant amino acid change with polarity change - Disease causing mutations already described in this position (Val451Met, Val451Gly) - De novo mutation |
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