Details for Combination OLI1563

VARIANTS ROR2:c.332T>A, p.Ile111Asn in Homozygous form; MAP3K1:c.1108C>T, p.Pro370Ser in Heterozygous form; GPRC6A:c.1528A>C, p.Asn510His in Heterozygous form; SLC29A3:c.707C>T, p.Thr236Met in Heterozygous form; AKR1C4:c.227G>C, p.Arg76Thr in Heterozygous form
GENE COMBINATION AKR1C4; GPRC6A; MAP3K1; ROR2; SLC29A3
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
000

FUN
manualmeta
00

FINAL
manualmeta
00


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