Details for Combination OLI709

VARIANTS MTHFR:c.601C>T, p.His201Tyr in Heterozygous form; GLDC:c.2203G>T, p.Val735Leu in Heterozygous form
GENE COMBINATION GLDC; MTHFR
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Isolated anencephaly
REFERENCES 29205322
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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