Details for Combination OLI1261

VARIANTS CHD7:c.4012G>A, p.Gly1338Ser in Heterozygous form; PROKR2:c.518T>G, p.Leu173Arg in Heterozygous form
GENE COMBINATION CHD7; PROKR2
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 606391; 612225; 615269; 606392; 244200; 606394; 614880; 616511; 613370; 614837; 615270; 612702; 614838; 125850; 614839; 614840; 615266; 600496; 609812; 614841; 613375; 146110; 147950; 610628; 612370; 610508; 616329; 614842; 614858; 308700; 125851
DISEASES Normosmic congenital hypogonadotropic hypogonadism
REFERENCES 36531499
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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