Details for Combination OLI475

VARIANTS TSC2:c.2032G>A, p.Ala678Thr in Heterozygous form; HOXA1: in Heterozygous form
GENE COMBINATION HOXA1; TSC2
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES Rare pervasive developmental disorder
REFERENCES 21624971
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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