Details for DUOX2:p.Pro982Ala

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4539301445100816
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DUOX2
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Pro982Ala
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.03140.01360.09940.00.04970.0204

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.049980.029680.069670.065420.00027190.058710.055170.054010.03728

ESP
AAEA
0.024340.04095
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign-0.088808Polymorphism
DBSNP ID rs61730030
1 combination linked to DUOX2:p.Pro982Ala OLI594
1 disease linked to DUOX2:p.Pro982Ala Congenital hypothyroidism
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