Details for Combination OLI395

VARIANTS TACR3:c.1345G>A, p.Ala449Thr in Heterozygous form; ANOS1:c.571C>T, p.Arg191Ter in Heterozygous form
GENE COMBINATION ANOS1; TACR3
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 615269; 616030; 147950; 614837; 612370; 614897; 615270; 615266; 244200; 308700; 612702; 615267; 615271; 614880; 610628; 614858; 618841; 614838; 614840
DISEASES Kallmann syndrome
REFERENCES 23643382
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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