Details for Combination OLI718

VARIANTS SALL4:c.2260G>A, p.Val754Met in Heterozygous form; CTH:c.200C>T, p.Thr67Ile in Heterozygous form; ALX1:c.191G>T, p.Arg64Leu in Heterozygous form; MTHFD1:c.1673C>T, p.Thr558Met in Heterozygous form; FZD6:c.1214G>A, p.Arg405Gln in Heterozygous form
GENE COMBINATION ALX1; CTH; FZD6; MTHFD1; SALL4
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Isolated anencephaly
REFERENCES 29205322
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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