Details for DCTN1:c.3799G>A, p.Glu1267Lys

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
7458866474361537
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DCTN1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_004082.4
CDNA CHANGE c.3799G>A
PROTEIN CHANGE p.Glu1267Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00.0030.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00016710.00.00.00.0022830.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.667701Disease causing
DBSNP ID rs146083590
1 combination linked to DCTN1:c.3799G>A, p.Glu1267Lys OLI437
1 disease linked to DCTN1:c.3799G>A, p.Glu1267Lys Amyotrophic lateral sclerosis
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