Details for FIG4:c.658A>G, p.Ile220Val

CHROMOSOME 6
GENOMIC COORDINATES
hg19hg38
110059539109738336
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FIG4
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_014845.5
CDNA CHANGE c.658A>G
PROTEIN CHANGE p.Ile220Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.0020.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00029880.00.00.00.0040260.00.00.00016330.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.054561Polymorphism
DBSNP ID rs565096937
1 combination linked to FIG4:c.658A>G, p.Ile220Val OLI442
1 disease linked to FIG4:c.658A>G, p.Ile220Val Amyotrophic lateral sclerosis
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