Details for RYR3:c.2486G>A, p.Arg829His

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
3391613633623935
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE RYR3
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001036.4
CDNA CHANGE c.2486G>A
PROTEIN CHANGE p.Arg829His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00140.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.001140.00019370.0020289.936e-055.564e-050.00027840.0016310.0021490.0001961

ESP
AAEA
0.00026430.001334
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.277802Polymorphism
DBSNP ID rs199500216
1 combination linked to RYR3:c.2486G>A, p.Arg829His OLI790
1 disease linked to RYR3:c.2486G>A, p.Arg829His Arthrogryposis syndrome
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