Details for Combination OLI556

VARIANTS IGSF10:c.5477G>A, p.Gly1862Asp in Homozygous form; PNPLA7:c.3608T>C, p.Ile1203Thr in Homozygous form
GENE COMBINATION IGSF10; PNPLA7
OLIGOGENIC EFFECT Unknown
ETHNICITY Turkish
OMIM IDS 614838; 613375; 308700; 616329; 614837; 147950; 612370; 610508; 615266; 600496; 615270; 613370; 146110; 606394; 609812; 606392; 614839; 614858; 125850; 614841; 610628; 614880; 244200; 125851; 615269; 606391; 612225; 616511; 614842; 614840; 612702
DISEASES Normosmic congenital hypogonadotropic hypogonadism
REFERENCES 31042289
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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