Details for Combination OLI1333

VARIANTS STAT1:c.541+50T>C, in Heterozygous form; TTN:c.97070A>C, in Heterozygous form; TTN:c.75185A>C, in Heterozygous form; GAL3ST2:c.29+1G>A, in Heterozygous form; GAL3ST2:c.458A>G, in Heterozygous form; HMCN1:c.109G>A, in Heterozygous form; HMCN1:c.4586A>G, in Heterozygous form; SIGLEC6:c.292G>T, in Heterozygous form
GENE COMBINATION GAL3ST2; HMCN1; SIGLEC6; STAT1; TTN
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES Primary immunodeficiency
REFERENCES 36338958
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
101

FUN
manualmeta
00

FINAL
manualmeta
00


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