Details for Combination OLI1567

VARIANTS BBS7:c.963delC, p.Pro321fs in Homozygous form; GPRC6A:c.2323dupT, p.Tyr775fs in Heterozygous form; PROKR2:c.253C>T, p.Arg85Cys in Heterozygous form
GENE COMBINATION BBS7; GPRC6A; PROKR2
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
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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