Details for SIGMAR1:c.622G>A, p.Arg208Trp

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
3463567934635682
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SIGMAR1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.622G>A
PROTEIN CHANGE p.Arg208Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0130.01590.01150.02680.0020.0072

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0078240.019450.016950.0028790.030830.0015720.0022880.0065210.004377

ESP
AAEA
0.01770.001744
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.093109Polymorphism
DBSNP ID rs11559048
1 combination linked to SIGMAR1:c.622G>A, p.Arg208Trp OLI438
1 disease linked to SIGMAR1:c.622G>A, p.Arg208Trp Amyotrophic lateral sclerosis
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