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Monday, December 19, 2016

class 5 pathogenic: msh2 c.1387-9T>A (InSIGHT/IARC)

Variants - LOVD - human mismatch repair genes - Leiden Open Variation Database
 Reported pathogenicity

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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