Details for DUOX2:p.Arg701Gln

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4539836945106171
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DUOX2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Arg701Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.03310.01360.10370.00.05370.0225

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.052470.029470.0720.07520.00027180.058750.057370.057370.04292

ESP
AAEA
0.031850.05875
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign1.613081Polymorphism
DBSNP ID rs113400262
1 combination linked to DUOX2:p.Arg701Gln OLI594
1 disease linked to DUOX2:p.Arg701Gln Congenital hypothyroidism
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