Details for Combination OLI1069

VARIANTS MSH4:c.1286A>T, p.Glu429Val in Heterozygous form; CYP21A2:c.844G>T, p.Val282Leu in Heterozygous form
GENE COMBINATION CYP21A2; MSH4
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 233300; 618723; 618078; 614324; 300510; 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


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