Details for Combination OLI337

VARIANTS MYO18B:c.2695+3A>G, in Heterozygous form; SUFU:c.1157+6C>T, in Heterozygous form; WNT7A:c.83C>T, p.Ser28Leu in Heterozygous form
GENE COMBINATION MYO18B; SUFU; WNT7A
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 214300; 613702; 118100
DISEASES Isolated Klippel-Feil syndrome
REFERENCES 32278351
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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