Details for Combination OLI717

VARIANTS MTHFS:c.320C>T, p.Thr107Ile in Heterozygous form; GRHL1:c.25C>T, p.Arg9Trp in Heterozygous form
GENE COMBINATION GRHL1; MTHFS
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
111

FUN
manualmeta
00

FINAL
manualmeta
00


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