Details for Combination OLI1724

VARIANTS SPIDR:c.566+1G>T, in Heterozygous form; SPIDR:c.2054delC, p.Ser685fs in Heterozygous form; GDF9:c.1283G>C, p.Ser428Thr in Heterozygous form
GENE COMBINATION GDF9; SPIDR
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 618117; 614324; 300510; 618078; 618723; 233300
DISEASES Primary ovarian failure
REFERENCES 36793102
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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