Details for Combination OLI1054

VARIANTS NOTCH2:c.2084C>A, p.Ala695Glu in Heterozygous form; TP53:c.475G>A, p.Ala159Thr in Heterozygous form; SAMD11:c.682_683insT, p.Pro228LeufsTer227 in Heterozygous form
GENE COMBINATION NOTCH2; SAMD11; TP53
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 618078; 614324; 618723; 233300; 618117; 300510
DISEASES Primary ovarian failure
REFERENCES 34803902
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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