Details for DUOXA2:c.738C>A, p.Tyr246Ter

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4540947245117274
VARIANT EFFECT None
ANNOTATION FLAG None
GENE DUOXA2
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_207581.4
CDNA CHANGE c.738C>A
PROTEIN CHANGE p.Tyr246Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00014310.00.00.00.0018610.09.309e-060.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.571633Disease causing
DBSNP ID rs4774518
2 combinations linked to DUOXA2:c.738C>A, p.Tyr246Ter OLI991; OLI992
1 disease linked to DUOXA2:c.738C>A, p.Tyr246Ter Congenital hypothyroidism

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