Details for Combination OLI1047

VARIANTS ADAMTS4:c.803G>A, p.Arg268Gln in Heterozygous form; DHCR24:c.1046C>G, p.Pro349Arg in Heterozygous form; FSHR:c.491C>T, p.Ser164Phe in Heterozygous form; RAD52:c.175G>A, p.Gly59Arg in Heterozygous form
GENE COMBINATION ADAMTS4; DHCR24; FSHR; RAD52
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 618078; 614324; 618723; 233300; 618117; 300510
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.