Details for Combination OLI1520

VARIANTS GHRHR:c.812+4A>C, in Heterozygous form; MYRF:c.848C>T, p.Thr283Ile in Heterozygous form; PROP1:c.302G>T, p.Ser101Ile in Heterozygous form; FGFR2:c.34G>A, p.Val12Met in Heterozygous form
GENE COMBINATION FGFR2; GHRHR; MYRF; PROP1
OLIGOGENIC EFFECT Unknown
ETHNICITY Algerian
OMIM IDS N.A.
DISEASES 46,XY disorder of sex development
REFERENCES 36110220
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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