Details for DUOX2:p.Arg885Leu

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4539615845103960
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DUOX2
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Arg885Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00080.00.00.0040.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00040560.00.00.00.0053280.02.637e-050.03.266e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging6.625395Disease causing
DBSNP ID rs181461079
1 combination linked to DUOX2:p.Arg885Leu OLI473
1 disease linked to DUOX2:p.Arg885Leu Congenital hypothyroidism
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