Details for DCTN1:c.586A>G, p.Ile196Val

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
7459872374371596
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DCTN1
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_004082.4
CDNA CHANGE c.586A>G
PROTEIN CHANGE p.Ile196Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00320.00.00580.00.00890.0031

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0046040.000630.0039090.019990.00.0017620.0061490.0057410.001034

ESP
AAEA
0.0011360.00768
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.768705Polymorphism
DBSNP ID rs55862001
1 combination linked to DCTN1:c.586A>G, p.Ile196Val OLI271
1 disease linked to DCTN1:c.586A>G, p.Ile196Val Amyotrophic lateral sclerosis
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