Details for Combination OLI1513

VARIANTS DHX37:c.923G>A, p.Arg308Gln in Heterozygous form; SLC29A3:c.971C>T, p.Pro324Leu in Heterozygous form; CCDC141:c.1979G>A, p.Arg660Gln in Heterozygous form
GENE COMBINATION CCDC141; DHX37; SLC29A3
OLIGOGENIC EFFECT Unknown
ETHNICITY Algerian
OMIM IDS N.A.
DISEASES 46,XY disorder of sex development
REFERENCES 36110220
SCORES
FAMmanual
0

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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