Details for Combination OLI415

VARIANTS CAPN3:c.1663G>A, p.Val555Ile in Heterozygous form; DES:c.656C>T, p.Thr219Ile in Heterozygous form
GENE COMBINATION CAPN3; DES
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES Limb-girdle muscular dystrophy
REFERENCES 30323756
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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