Details for Combination OLI1715

VARIANTS TAP1:p.Glu46Ter in Heterozygous form; IL21R:c.867+10_867+28dup, in Heterozygous form
GENE COMBINATION IL21R; TAP1
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 607594; 613494; 240500; 614699; 613495; 146830; 615577; 613496; 613493; 616576
DISEASES Common variable immunodeficiency
REFERENCES 38028622
SCORES
FAMmanual
2

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0022

VAR
manualknowledgemeta
111

FUN
manualmeta
02

FINAL
manualmeta
02


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