Details for TG:c.2183C>A, p.Thr728Lys

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
133900235132887990
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TG
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_003235
CDNA CHANGE c.2183C>A
PROTEIN CHANGE p.Thr728Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.013e-060.00.00.00.00.00.00.03.294e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging1.944506Polymorphism
DBSNP ID rs116468671
1 combination linked to TG:c.2183C>A, p.Thr728Lys OLI1090
1 disease linked to TG:c.2183C>A, p.Thr728Lys Congenital hypothyroidism
Found any issues with the data on this page? Report this entry.