Details for TG:c.886C>T, p.Arg296Ter

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
133894854132882609
VARIANT EFFECT nonsense
ANNOTATION FLAG automatically_attributed
GENE TG
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_003235.4
CDNA CHANGE c.886C>T
PROTEIN CHANGE p.Arg296Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00036190.00036910.00057820.0010910.04.619e-050.00042190.00065153.266e-05

ESP
AAEA
0.00068090.0005814
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone6.697937Disease causing
DBSNP ID rs121912648
1 combination linked to TG:c.886C>T, p.Arg296Ter OLI520
1 disease linked to TG:c.886C>T, p.Arg296Ter Congenital hypothyroidism
Found any issues with the data on this page? Report this entry.