Details for SETX:c.6457T>G, p.Cys2153Gly

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
135158740132283353
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SETX
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT NM_001351527
CDNA CHANGE c.6457T>G
PROTEIN CHANGE p.Cys2153Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.814981Disease causing
DBSNP ID NA
1 combination linked to SETX:c.6457T>G, p.Cys2153Gly OLI950
1 disease linked to SETX:c.6457T>G, p.Cys2153Gly Amyotrophic lateral sclerosis
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