Details for Combination OLI1560

VARIANTS AMH:c.991T>C, p.Ser331Pro in Heterozygous form; SLC29A3:c.1088G>A, p.Arg363Gln in Heterozygous form
GENE COMBINATION AMH; 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
111

FUN
manualmeta
00

FINAL
manualmeta
00


Found any issues with the data on this page? Report this entry.