Details for Combination OLI1511

VARIANTS DHX37:c.923G>A, p.Arg308Gln in Heterozygous form; GLI2:c.1289C>G, p.Ala430Gly in Heterozygous form; CCDC141:c.3782C>T, p.Ala1261Val in Heterozygous form
GENE COMBINATION CCDC141; DHX37; GLI2
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
011

FUN
manualmeta
00

FINAL
manualmeta
00


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