Details for Combination OLI1140

VARIANTS CNOT1:c.1634C>T, p.Ala545Val in Heterozygous form; WNT4:c.739C>T, p.Arg247Cys in Heterozygous form
GENE COMBINATION CNOT1; WNT4
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 277000; 601076
DISEASES Mayer-Rokitansky-Küster-Hauser syndrome
REFERENCES 33469725
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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