Details for QARS1:c.2261A>G, p.Asp754Gly

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
4913544149098008
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed_and_verified
GENE QARS1
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_005051.2
CDNA CHANGE c.2261A>G
PROTEIN CHANGE p.Asp754Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00023460.02.891e-050.00.00.00050820.00040430.03.266e-05

ESP
AAEA
0.00.0004651
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.48392Disease causing
DBSNP ID rs142480574
1 combination linked to QARS1:c.2261A>G, p.Asp754Gly OLI330
1 disease linked to QARS1:c.2261A>G, p.Asp754Gly Amyotrophic lateral sclerosis
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