Details for Combination OLI1730

VARIANTS MSH5:c.1051C>G, p.Arg351Gly in Heterozygous form; MSH4:c.1025C>T, p.Thr342Ile in Heterozygous form; MSH4:c.2220_2223del, p.Met740fs in Heterozygous form; PGRMC1:c.533C>T, p.Thr178Ile in Heterozygous form
GENE COMBINATION MSH4; MSH5; PGRMC1
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 233300; 618723; 618078; 614324; 300510; 618117
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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