Details for Combination OLI1144

VARIANTS TRIM71:c.965G>A, p.Arg322Gln in Heterozygous form; WNT9B:c.454G>A, p.Glu152Lys in Heterozygous form
GENE COMBINATION TRIM71; WNT9B
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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