Details for DUOXA2:c.739G>C, p.Gly247Arg

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4540947345117275
VARIANT EFFECT None
ANNOTATION FLAG None
GENE DUOXA2
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE c.739G>C
PROTEIN CHANGE p.Gly247Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.101836Disease causing
DBSNP ID NA
1 combination linked to DUOXA2:c.739G>C, p.Gly247Arg OLI1174
1 disease linked to DUOXA2:c.739G>C, p.Gly247Arg Congenital hypothyroidism
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