Details for FUS:p.Ser135Asn

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
3119559831184277
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FUS
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Ser135Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0020.00.00580.00.0060.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00053286.152e-050.0030640.00.00.00.0001670.0013030.0

ESP
AAEA
0.00.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.985045Polymorphism
DBSNP ID rs61732970
1 combination linked to FUS:p.Ser135Asn OLI775
1 disease linked to FUS:p.Ser135Asn Amyotrophic lateral sclerosis
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