Details for Combination OLI1051

VARIANTS VWF:c.4517C>T, p.Ser1506Leu in Heterozygous form; VWF:c.5641G>A, p.Asp1881Asn in Heterozygous form; LGR4:c.2531A>G, p.Asp844Gly in Heterozygous form; HK3:c.2389G>A, p.Glu797Lys in Heterozygous form
GENE COMBINATION HK3; LGR4; VWF
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 233300; 618723; 618078; 614324; 300510; 618117
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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