Details for Combination OLI1521

VARIANTS FGFR1:c.211G>A, p.Val71Met in Heterozygous form; HSD17B3:c.679A>G, p.Thr227Ala in Heterozygous form
GENE COMBINATION FGFR1; HSD17B3
OLIGOGENIC EFFECT Unknown
ETHNICITY Algerian
OMIM IDS N.A.
DISEASES 46,XY disorder of sex development
REFERENCES 36110220
SCORES
FAMmanual
0

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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