Details for Combination OLI1709

VARIANTS KMT2C:c.2573G>T, p.Trp858Leu in Heterozygous form; KMT5A:c.31C>T, p.Arg11Cys in Heterozygous form
GENE COMBINATION KMT2C; KMT5A
OLIGOGENIC EFFECT Unknown
ETHNICITY Qatari
OMIM IDS N.A.
DISEASES Rare pervasive developmental disorder
REFERENCES 38025430
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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