Details for Combination OLI1672

VARIANTS ZNF469:c.11173G>A, p.Ala3725Thr in Heterozygous form; NDRG1:c.699-2A>G, in Heterozygous form; LOXHD1:c.1843C>T, p.Arg615Trp in Heterozygous form
GENE COMBINATION LOXHD1; NDRG1; ZNF469
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 148300; 617928
DISEASES Non-Syndromic genetic keratoconus
REFERENCES 37895187
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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