Details for Combination OLI1544

VARIANTS CHD7:c.8416C>G, p.Leu2806Val in Heterozygous form; PROKR2:c.253C>T, p.Arg85Cys in Heterozygous form; TGIF1:c.195G>C, p.Trp65Cys in Heterozygous form; ANOS1:c.1187C>T, p.Ser396Leu in Hemizygous form
GENE COMBINATION ANOS1; CHD7; PROKR2; TGIF1
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
111

FUN
manualmeta
00

FINAL
manualmeta
00


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