Details for DUOX2:c.4537G>C, p.Gly1513Arg

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4538645845094260
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DUOX2
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_014080.4
CDNA CHANGE c.4537G>C
PROTEIN CHANGE p.Gly1513Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.207632Disease causing
DBSNP ID rs748262140
1 combination linked to DUOX2:c.4537G>C, p.Gly1513Arg OLI564
1 disease linked to DUOX2:c.4537G>C, p.Gly1513Arg Congenital hypothyroidism
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