Details for Combination OLI1723

VARIANTS MSH5:c.826C>T, p.Arg276Cys in Heterozygous form; MSH4:c.1063A>G, p.Ile355Val in Heterozygous form
GENE COMBINATION MSH4; MSH5
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
2222

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


Found any issues with the data on this page? Report this entry.