Details for DUOX2:p.Arg726Trp

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4539799945105801
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DUOX2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Arg726Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00019916.157e-052.891e-050.00.04.629e-050.00039660.00016313.267e-05

ESP
AAEA
0.00.0002327
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.834291Polymorphism
DBSNP ID rs141573582
1 combination linked to DUOX2:p.Arg726Trp OLI583
1 disease linked to DUOX2:p.Arg726Trp Congenital hypothyroidism
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