Details for TG:c.521G>T, p.Gly174Val

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
133885349132873104
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TG
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.521G>T
PROTEIN CHANGE p.Gly174Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.749986Disease causing
DBSNP ID NA
1 combination linked to TG:c.521G>T, p.Gly174Val OLI1493
1 disease linked to TG:c.521G>T, p.Gly174Val Congenital hypothyroidism
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