Details for DUOX2:c.1395_1396delCC, p.Gln466GlyfsTer49

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4540098845108790
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE DUOX2
REFERENCE ALLELE TGG
ALTERNATE ALLELE T
TRANSCRIPT NM_014080.4
CDNA CHANGE c.1395_1396delCC
PROTEIN CHANGE p.Gln466GlyfsTer49
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone3.163831Disease causing
DBSNP ID NA
1 combination linked to DUOX2:c.1395_1396delCC, p.Gln466GlyfsTer49 OLI031
1 disease linked to DUOX2:c.1395_1396delCC, p.Gln466GlyfsTer49 Congenital hypothyroidism
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