Details for Combination OLI1307

VARIANTS FUS:c.1574C>T, p.Pro525Leu in Heterozygous form; CARD11:c.1653+1G>A, in Heterozygous form; GPT2:p.Asp422Tyr in Homozygous form
GENE COMBINATION CARD11; FUS; GPT2
OLIGOGENIC EFFECT Unknown
ETHNICITY Ashkenazi Jewish, European
OMIM IDS 205100; 614373; 602099
DISEASES Juvenile amyotrophic lateral sclerosis
REFERENCES 35812163
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.