Details for DUOX2:c.3329G>A, p.Arg1110Gln

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4539194645099748
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DUOX2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_014080.4
CDNA CHANGE c.3329G>A
PROTEIN CHANGE p.Arg1110Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.0020.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00019480.02.891e-050.00.0024460.02.637e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.25728Disease causing
DBSNP ID rs368488511
8 combinations linked to DUOX2:c.3329G>A, p.Arg1110Gln OLI032; OLI473; OLI1077; OLI1078; OLI1484; OLI1496; OLI1497; OLI1805
1 disease linked to DUOX2:c.3329G>A, p.Arg1110Gln Congenital hypothyroidism
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