Details for Combination OLI1152

VARIANTS SPG7:c.1529C>T, p.Ala510Val in Heterozygous form; CACNA1A:c.4981C>T, p.Arg1661Cys in Heterozygous form
GENE COMBINATION CACNA1A; SPG7
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES Hereditary spastic paraplegia
REFERENCES 33598982
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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