Details for Combination OLI1052

VARIANTS TEX15:c.6511C>T, p.Arg2171Ter in Heterozygous form; TUBA8:c.967G>A, p.Val323Met in Heterozygous form; ID1:c.458_460delTGT, p.Leu153del in Heterozygous form
GENE COMBINATION ID1; TEX15; TUBA8
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 233300; 300510; 614324; 618723; 618078; 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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