Details for DUOXA1:c.638C>T, p.Thr213Met

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4541243545120237
VARIANT EFFECT None
ANNOTATION FLAG None
GENE DUOXA1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001276264.2
CDNA CHANGE c.638C>T
PROTEIN CHANGE p.Thr213Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00360.00150.00140.0020.0070.0061

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.003950.0015380.0047130.0043670.0032080.0026350.0029460.0050510.009113

ESP
AAEA
0.0015920.002792
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.954706None
DBSNP ID rs149960164
2 combinations linked to DUOXA1:c.638C>T, p.Thr213Met OLI1077; OLI1078
1 disease linked to DUOXA1:c.638C>T, p.Thr213Met Congenital hypothyroidism
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