Details for Combination OLI1538

VARIANTS SHH:c.1367G>C, p.Gly456Ala in Heterozygous form; GHR:c.427G>T, p.Val143Leu in Heterozygous form; LZTR1:c.905C>T, p.Ala302Val in Heterozygous form; FGFR3:c.1885G>A, p.Glu629Lys in Heterozygous form; FLRT3:c.88T>C, p.Ser30Pro in Heterozygous form
GENE COMBINATION FGFR3; FLRT3; GHR; LZTR1; SHH
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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