Details for Combination OLI291

VARIANTS FBN2:c.7357T>A, p.Cys2453Ser in Heterozygous form; RPGRIP1L:c.2156C>G, p.Thr719Arg in Heterozygous form
GENE COMBINATION FBN2; RPGRIP1L
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Adolescent idiopathic scoliosis
REFERENCES 32381728
SCORES
FAMmanual
2

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
01


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