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Detailed info
| Owner: | tordai-lab | Position: | exon 7 | HAEUID: | 134 |
| Nucleotide change | Protein change | ||||
| Traditional: | 14224A>T | Traditional: | Asp386Val | ||
| HUGO: | g.16106A>T | HUGO: | p.Asp408Val | ||
| CDS: | c.1223A>T | 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. - Significant amino acid change with polarity and charge change |
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