Details for DAO:c.65G>A, p.Arg22His

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
109278847108885071
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE DAO
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001917.5
CDNA CHANGE c.65G>A
PROTEIN CHANGE p.Arg22His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
9.147e-050.00.00.00.00086990.01.758e-050.00.0001633

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.367806Polymorphism
DBSNP ID rs200257378
1 combination linked to DAO:c.65G>A, p.Arg22His OLI438
1 disease linked to DAO:c.65G>A, p.Arg22His Amyotrophic lateral sclerosis
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