Details for Combination OLI662

VARIANTS OPTN:c.1588C>A, p.Gln530Lys in Heterozygous form; HNRNPA1:c.885_890del, p.Gly296_Gly297del in Heterozygous form
GENE COMBINATION HNRNPA1; OPTN
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 606640; 617892; 615515; 612069; 612577; 613435; 105400; 611895; 616437; 608030; 617839; 606070; 615426; 300857; 608031; 614696; 616208; 613954; 614808; 205250; 608627
DISEASES Amyotrophic lateral sclerosis
REFERENCES 29525178
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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