Details for Combination OLI1040

VARIANTS CYP21A2:c.1360C>T, p.Pro454Ser in Heterozygous form; ATM:c.418G>C, p.Asp140His in Heterozygous form; BLM:c.2333C>G, p.Ser778Cys in Heterozygous form; ADAMTS16:c.2459G>A, p.Arg820Gln in Heterozygous form; FSHR:c.847C>T, p.Arg283Trp in Heterozygous form
GENE COMBINATION ADAMTS16; ATM; BLM; CYP21A2; FSHR
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 618117; 614324; 300510; 618078; 618723; 233300
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.