Details for DUOX2:p.Arg432His

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4540109045108892
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DUOX2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Arg432His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0010.00.00.0050.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
6.76e-050.00018460.00.00.0005980.01.758e-050.0001630.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.29153Polymorphism
DBSNP ID rs530736554
1 combination linked to DUOX2:p.Arg432His OLI470
1 disease linked to DUOX2:p.Arg432His Congenital hypothyroidism
Found any issues with the data on this page? Report this entry.