Details for DUOX2:c.121T>C, p.Trp41Arg

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4540522445113026
VARIANT EFFECT None
ANNOTATION FLAG None
GENE DUOX2
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.121T>C
PROTEIN CHANGE p.Trp41Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.390859Disease causing
DBSNP ID NA
1 combination linked to DUOX2:c.121T>C, p.Trp41Arg OLI1807
1 disease linked to DUOX2:c.121T>C, p.Trp41Arg Congenital hypothyroidism
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