Details for TG:c.1514G>A, p.Gly505Asp

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
133899131132886886
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TG
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_003235.4
CDNA CHANGE c.1514G>A
PROTEIN CHANGE p.Gly505Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.167856Polymorphism
DBSNP ID NA
1 combination linked to TG:c.1514G>A, p.Gly505Asp OLI564
1 disease linked to TG:c.1514G>A, p.Gly505Asp Congenital hypothyroidism
Found any issues with the data on this page? Report this entry.