Details for Combination OLI1580

VARIANTS SRA1:c.536T>C, p.Ile179Thr in Heterozygous form; AMH:c.553C>G, p.Gln185Glu in Heterozygous form; FGFR3:c.2339C>G, p.Pro780Arg in Heterozygous form
GENE COMBINATION AMH; FGFR3; SRA1
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
011

FUN
manualmeta
00

FINAL
manualmeta
00


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