Details for Combination OLI1150

VARIANTS SPG7:c.1796G>T, p.Arg599Leu in Heterozygous form; TBCE:c.661G>C, p.Val221Leu in Heterozygous form; TBCE:c.1537C>T, p.Gln513Ter in Heterozygous form
GENE COMBINATION SPG7; TBCE
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES Hereditary spastic paraplegia
REFERENCES 33598982
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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