Details for Combination OLI1141

VARIANTS MEFV:c.202C>T, p.Gln68Ter in Heterozygous form; WNT4:c.829C>A, p.Pro277Thr in Heterozygous form
GENE COMBINATION MEFV; WNT4
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 277000; 601076
DISEASES Mayer-Rokitansky-Küster-Hauser syndrome
REFERENCES 33469725
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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