Details for DCTN1:c.3146G>A, p.Arg1049Gln

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
7459225274365125
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DCTN1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_004082.4
CDNA CHANGE c.3146G>A
PROTEIN CHANGE p.Arg1049Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.00.0020.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0010780.00024610.0014170.00.00.00013860.0018020.0016290.0

ESP
AAEA
0.0002270.002326
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging3.029413Polymorphism
DBSNP ID rs72659383
1 combination linked to DCTN1:c.3146G>A, p.Arg1049Gln OLI277
1 disease linked to DCTN1:c.3146G>A, p.Arg1049Gln Amyotrophic lateral sclerosis
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