Details for Combination OLI1044

VARIANTS VWF:c.4517C>T, p.Ser1506Leu in Heterozygous form; VWF:c.4508T>C, p.Leu1503Pro in Heterozygous form; NOTCH3:c.2791A>G, p.Ser931Gly in Heterozygous form; TRRAP:c.10171A>G, p.Met3391Val in Heterozygous form
GENE COMBINATION NOTCH3; TRRAP; VWF
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 618117; 614324; 300510; 618078; 618723; 233300
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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