Details for Combination OLI828

VARIANTS GRN:c.1003T>C, p.Cys335Arg in Heterozygous form; NEFH:c.1514C>T, p.Pro505Leu in Heterozygous form
GENE COMBINATION GRN; NEFH
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
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 31475037
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
101

FUN
manualmeta
00

FINAL
manualmeta
00


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