Details for Combination OLI413

VARIANTS MEFV:p.Met694Val in Heterozygous form; TNFRSF1A:p.Arg121Gln in Heterozygous form
GENE COMBINATION MEFV; TNFRSF1A
OLIGOGENIC EFFECT Unknown
ETHNICITY Cypriot
OMIM IDS 134610; 249100
DISEASES Familial Mediterranean fever
REFERENCES 27994174
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
01


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