Details for DUOX2:c.2654G>A, p.Arg885Gln

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4539615845103960
VARIANT EFFECT None
ANNOTATION FLAG None
GENE DUOX2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.2654G>A
PROTEIN CHANGE p.Arg885Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00011530.00.00.00.0010870.00.00.00.000294

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging6.632517Disease causing
DBSNP ID NA
1 combination linked to DUOX2:c.2654G>A, p.Arg885Gln OLI1807
1 disease linked to DUOX2:c.2654G>A, p.Arg885Gln Congenital hypothyroidism

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