Details for SETX:c.4660T>G, p.Cys1554Gly

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
135202325132326938
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SETX
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT NM_015046.5
CDNA CHANGE c.4660T>G
PROTEIN CHANGE p.Cys1554Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00580.00080.00.0040.0020.0225

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0054940.00043140.00052050.0002980.0027190.007530.0035190.0034290.02346

ESP
AAEA
0.00068090.004419
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.50487Polymorphism
DBSNP ID rs112089123
2 combinations linked to SETX:c.4660T>G, p.Cys1554Gly OLI283; OLI663
1 disease linked to SETX:c.4660T>G, p.Cys1554Gly Amyotrophic lateral sclerosis
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