Details for Combination OLI1796

VARIANTS MYOC:c.1109C>T, p.Pro370Leu in Heterozygous form; LTBP2:c.1295C>T, p.Pro432Leu in Heterozygous form
GENE COMBINATION LTBP2; MYOC
OLIGOGENIC EFFECT Unknown
ETHNICITY Indian
OMIM IDS 137750; 608695; 611274; 231300; 608696; 610535
DISEASES Juvenile glaucoma
REFERENCES 37090837
SCORES
FAMmanual
1

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
101

FUN
manualmeta
22

FINAL
manualmeta
11


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