Details for DUOX2:c.280G>A, p.Gly94Ser

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4540479745112599
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DUOX2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_014080.4
CDNA CHANGE c.280G>A
PROTEIN CHANGE p.Gly94Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.573546Polymorphism
DBSNP ID NA
1 combination linked to DUOX2:c.280G>A, p.Gly94Ser OLI518
1 disease linked to DUOX2:c.280G>A, p.Gly94Ser Congenital hypothyroidism
Found any issues with the data on this page? Report this entry.