Details for DUOX2:c.2048G>T, p.Arg683Leu

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4539842345106225
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DUOX2
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_014080.4
CDNA CHANGE c.2048G>T
PROTEIN CHANGE p.Arg683Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00.0030.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00034230.00.00.00.0046210.08.802e-060.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.047365Polymorphism
DBSNP ID rs8028305
1 combination linked to DUOX2:c.2048G>T, p.Arg683Leu OLI565
1 disease linked to DUOX2:c.2048G>T, p.Arg683Leu Congenital hypothyroidism
Found any issues with the data on this page? Report this entry.