Details for OPTN:c.964A>G, p.Lys322Glu

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
1316607613124076
VARIANT EFFECT unknown
ANNOTATION FLAG manually_corrected
GENE OPTN
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_021980.4
CDNA CHANGE c.964A>G
PROTEIN CHANGE p.Lys322Glu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
None0.97730.99711.00.9991.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.99750.97810.99880.98731.00.99990.99940.99720.9994

ESP
AAEA
0.97460.9988
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.870379Polymorphism
DBSNP ID rs523747
1 combination linked to OPTN:c.964A>G, p.Lys322Glu OLI561
1 disease linked to OPTN:c.964A>G, p.Lys322Glu Amyotrophic lateral sclerosis
Found any issues with the data on this page? Report this entry.