Details for Combination OLI1049

VARIANTS LARS2:c.2192A>T, p.Tyr731Phe in Heterozygous form; RBBP8:c.2516G>A, p.Arg839Gln in Heterozygous form; THBS2:c.1183G>A, p.Val395Met in Heterozygous form; RIPK1:c.700G>A, p.Glu234Lys in Heterozygous form
GENE COMBINATION LARS2; RBBP8; RIPK1; THBS2
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 233300; 618117; 618723; 300510; 614324; 618078
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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