Details for SPG11:c.1108G>A, p.Glu370Lys

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4494403744651839
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SPG11
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.1108G>A
PROTEIN CHANGE p.Glu370Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00560.00230.00860.00.01590.0031

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.017070.0030840.0071740.024470.00.044490.021880.019150.005886

ESP
AAEA
0.0034120.02036
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging2.226598Polymorphism
DBSNP ID NA
1 combination linked to SPG11:c.1108G>A, p.Glu370Lys OLI969
1 disease linked to SPG11:c.1108G>A, p.Glu370Lys Amyotrophic lateral sclerosis
Found any issues with the data on this page? Report this entry.