Details for DUOX2:c.3693+1G>T,

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4538981145097613
VARIANT EFFECT splicing
ANNOTATION FLAG manually_attributed
GENE DUOX2
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_014080.4
CDNA CHANGE c.3693+1G>T
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00.0030.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00010340.00.00.00.0014130.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.632729Disease causing
DBSNP ID rs200717240
1 combination linked to DUOX2:c.3693+1G>T, OLI474
1 disease linked to DUOX2:c.3693+1G>T, Congenital hypothyroidism
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