Details for Combination OLI333

VARIANTS SOD1:p.Ala90Val in Heterozygous form; ANG:c.232A>G, p.Lys78Glu in Heterozygous form; KIAA1755:c.676C>T, p.Gln226Ter in Heterozygous form; KMT2C:c.10432C>G, p.Gln3478Glu in Heterozygous form; ADCY5:c.130C>A, p.His44Asn in Heterozygous form; AHNAK:c.13381A>G, p.Met4461Val in Heterozygous form; AHNAK:c.16348C>T, p.Pro5450Ser in Heterozygous form; ATP7A:c.2448A>C, p.Gln816His in Heterozygous form; MYOM1:c.4357A>T, p.Met1453Leu in Heterozygous form; POU2F1:c.829C>T, p.Arg277Cys in Heterozygous form
GENE COMBINATION ADCY5; AHNAK; ANG; ATP7A; KIAA1755; KMT2C; MYOM1; POU2F1; SOD1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
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 31086828
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00
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