Details for Combination OLI1561

VARIANTS KAT6B:c.4822A>G, p.Asn1608Asp in Heterozygous form; GPRC6A:c.2323dupT, p.Tyr775fs in Heterozygous form
GENE COMBINATION GPRC6A; KAT6B
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
100

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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