Details for DUOX2:p.Lys530Ter

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4539964845107450
VARIANT EFFECT nonsense
ANNOTATION FLAG automatically_attributed
GENE DUOX2
REFERENCE ALLELE T
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Lys530Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00.0030.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0006760.00.00.00.0091880.00.00.00016290.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone7.547134Disease causing
DBSNP ID rs180671269
2 combinations linked to DUOX2:p.Lys530Ter OLI468; OLI562
1 disease linked to DUOX2:p.Lys530Ter Congenital hypothyroidism
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