Details for Combination OLI1427

VARIANTS RAB3GAP2:c.4060A>G, p.Ile1354Val in Heterozygous form; LEPR:c.371A>G, p.Asp124Gly in Heterozygous form; CHD7:c.6190A>G, p.Ile2064Val in Heterozygous form
GENE COMBINATION CHD7; LEPR; RAB3GAP2
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 228300
DISEASES Hypogonadotropic hypogonadism with absent puberty phenotype
REFERENCES 36407308
SCORES
FAMmanual
0

STAT
manualknowledgemeta
011

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.