Details for Combination OLI953

VARIANTS CCNF:c.481G>A, p.Gly161Arg in Heterozygous form; DCTN1:c.1843C>T, p.His615Tyr in Heterozygous form
GENE COMBINATION CCNF; DCTN1
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 615515; 608627; 300857; 205250; 611895; 612069; 617839; 616208; 613435; 608030; 612577; 614696; 614808; 105400; 616437; 613954; 606070; 608031; 617892; 615426; 606640
DISEASES Amyotrophic lateral sclerosis
REFERENCES 34275688
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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