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Variants - LOVD - human mismatch repair genes - Leiden Open Variation Database
Reported pathogenicity
| Pathogenic | |||||||
| Concluded pathogenicity | Pathogenic | ||||||
| Exon | 8i | ||||||
| DNA change | c.1387-9T>A | ||||||
| RNA change | r.1386_1387ins1387-7_1387-1 | ||||||
| IARC/InSiGHT Classification Class 5: Pathogenic | p.Val463Phefs*7 |
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