Details for TG:p.Val1105Ile

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
133911138132898893
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TG
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Val1105Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00460.01660.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.001120.014620.00081070.00.00.07.934e-050.0011430.0

ESP
AAEA
0.013390.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.989144Polymorphism
DBSNP ID rs115670342
1 combination linked to TG:p.Val1105Ile OLI596
1 disease linked to TG:p.Val1105Ile Congenital hypothyroidism

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