Details for Combination OLI980

VARIANTS UNC13D:c.952_953delGCinsTA, p.Ala318Ter in Heterozygous form; STX11:c.122T>C, p.Leu41Pro in Heterozygous form
GENE COMBINATION STX11; UNC13D
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Hemophagocytic syndrome
REFERENCES 34339548
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

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.