Details for DUOXA2:c.398G>A, p.Arg133His

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4540877145116573
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DUOXA2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_207581.3
CDNA CHANGE c.398G>A
PROTEIN CHANGE p.Arg133His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.369075Polymorphism
DBSNP ID rs1055553864
1 combination linked to DUOXA2:c.398G>A, p.Arg133His OLI562
1 disease linked to DUOXA2:c.398G>A, p.Arg133His Congenital hypothyroidism
Found any issues with the data on this page? Report this entry.