Details for TG:c.848G>T, p.Arg283Leu

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
133894816132882571
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TG
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.848G>T
PROTEIN CHANGE p.Arg283Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.211951None
DBSNP ID NA
1 combination linked to TG:c.848G>T, p.Arg283Leu OLI1609
1 disease linked to TG:c.848G>T, p.Arg283Leu Congenital hypothyroidism

Found any issues with the data on this page? Report this entry.