Details for DUOXA1:c.937A>G, p.Ser313Gly

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4541139945119201
VARIANT EFFECT None
ANNOTATION FLAG None
GENE DUOXA1
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_001276264.2
CDNA CHANGE c.937A>G
PROTEIN CHANGE p.Ser313Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00880.02040.00290.01490.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.003230.018760.00092590.0076510.01740.00.00021980.0040760.0009146

ESP
AAEA
0.018650.0004653
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.797571Polymorphism
DBSNP ID rs16977686
2 combinations linked to DUOXA1:c.937A>G, p.Ser313Gly OLI1079; OLI1498
1 disease linked to DUOXA1:c.937A>G, p.Ser313Gly Congenital hypothyroidism
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