Details for Combination OLI1574

VARIANTS GLI3:c.3935T>G, p.Met1312Arg in Heterozygous form; CTU2:c.1439C>T, p.Pro480Leu in Heterozygous form
GENE COMBINATION CTU2; GLI3
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
011

FUN
manualmeta
00

FINAL
manualmeta
00


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