Details for Combination OLI1138

VARIANTS AMH:c.236A>G, p.Tyr79Cys in Heterozygous form; MEFV:c.1777G>A, p.Ala593Thr in Heterozygous form
GENE COMBINATION AMH; MEFV
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
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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