Details for IL10RA:c.1051A>G, p.Arg351Gly

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
117869670117998955
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE IL10RA
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_001558.3
CDNA CHANGE c.1051A>G
PROTEIN CHANGE p.Arg351Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
None0.81770.81410.99310.68290.7444

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.74320.80450.86620.7320.99660.62170.68210.72790.7379

ESP
AAEA
0.80820.6876
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.446922Polymorphism
DBSNP ID rs2229113
1 combination linked to IL10RA:c.1051A>G, p.Arg351Gly OLI130
1 disease linked to IL10RA:c.1051A>G, p.Arg351Gly Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
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