Details for IL10RA:c.475A>G, p.Ser159Gly

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
117864063117993348
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE IL10RA
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_001558.3
CDNA CHANGE c.475A>G
PROTEIN CHANGE p.Ser159Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.08170.00680.08650.00690.1670.1687

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.12960.024980.051860.13250.0021790.20340.1660.1310.1607

ESP
AAEA
0.031140.1647
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.312001Polymorphism
DBSNP ID rs3135932
1 combination linked to IL10RA:c.475A>G, p.Ser159Gly OLI130
1 disease linked to IL10RA:c.475A>G, p.Ser159Gly Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
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