Details for TG:c.5791A>G, p.Ile1931Val

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
133980143132967898
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TG
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_003235.5
CDNA CHANGE c.5791A>G
PROTEIN CHANGE p.Ile1931Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00080.00.00.0040.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00020340.00.00.00.0025070.00.00.00.0001634

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign-0.162228Polymorphism
DBSNP ID rs115877910
1 combination linked to TG:c.5791A>G, p.Ile1931Val OLI995
1 disease linked to TG:c.5791A>G, p.Ile1931Val Congenital hypothyroidism
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