Details for GARS1:c.479C>G, p.Ala160Gly

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
3064272130603105
VARIANT EFFECT None
ANNOTATION FLAG None
GENE GARS1
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_001316772
CDNA CHANGE c.479C>G
PROTEIN CHANGE p.Ala160Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.120294Disease causing
DBSNP ID NA
1 combination linked to GARS1:c.479C>G, p.Ala160Gly OLI947
1 disease linked to GARS1:c.479C>G, p.Ala160Gly Amyotrophic lateral sclerosis
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