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Detailed info
| Owner: | tordai-lab | Position: | exon 3 | HAEUID: | 140 |
| Nucleotide change | Protein change | ||||
| Traditional: | 2579_2620del42 | Traditional: | deletion of amino acid | ||
| HUGO: | g.3761_3802del | HUGO: | p.Leu146_Ala159del | ||
| CDS: | c.435_476del | Effect: | pathogenic | ||
| Reference: | Kalmar L et al (Hum Mutat 2003 Dec;22(6):498) | ||||
| Family history: | positive | No. of cases: | 2 | ||
| Notes: | - In frame deletion but a significant part of helix A is lost. - Disease-linked segregation in the family. |
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