Details for TG:c.3067C>T, p.Arg1023Trp

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
133909959132897714
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TG
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_003235
CDNA CHANGE c.3067C>T
PROTEIN CHANGE p.Arg1023Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00080.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.988e-050.0001230.00.00.00.02.638e-050.00.0

ESP
AAEA
0.0002270.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.779045Polymorphism
DBSNP ID rs114452431
1 combination linked to TG:c.3067C>T, p.Arg1023Trp OLI1093
1 disease linked to TG:c.3067C>T, p.Arg1023Trp Congenital hypothyroidism
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