Details for GART:c.1730T>C, p.Met577Thr

CHROMOSOME 21
GENOMIC COORDINATES
hg19hg38
3488988833517581
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE GART
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_000819.4
CDNA CHANGE c.1730T>C
PROTEIN CHANGE p.Met577Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00140.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00096290.00036920.0006940.0072450.00027189.245e-050.00091530.0013050.0006533

ESP
AAEA
0.00045390.00186
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.589221Polymorphism
DBSNP ID rs151206034
1 combination linked to GART:c.1730T>C, p.Met577Thr OLI742
1 disease linked to GART:c.1730T>C, p.Met577Thr Isolated anencephaly
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