Details for Combination OLI1570

VARIANTS AR:c.1833T>A, p.Asn611Lys in Hemizygous form; GPRC6A:c.670G>T, p.Ala224Ser in Heterozygous form; ROR2:c.1583G>A, p.Arg528Gln in Heterozygous form; FLNA:c.7450C>T, p.Arg2484Cys in Hemizygous form
GENE COMBINATION AR; FLNA; GPRC6A; ROR2
OLIGOGENIC EFFECT Unknown
ETHNICITY Algerian
OMIM IDS N.A.
DISEASES Syndrome with 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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