Details for DCTN1:c.3134T>C, p.Ile1045Thr

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
7459226474365137
VARIANT EFFECT None
ANNOTATION FLAG None
GENE DCTN1
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_004082.5
CDNA CHANGE c.3134T>C
PROTEIN CHANGE p.Ile1045Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.809869Polymorphism
DBSNP ID NA
1 combination linked to DCTN1:c.3134T>C, p.Ile1045Thr OLI1631
1 disease linked to DCTN1:c.3134T>C, p.Ile1045Thr Amyotrophic lateral sclerosis
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