Details for TG:p.Val1738Ile

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
133953766132941521
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TG
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Val1738Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.0020.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00012330.00.00.00.0013054.62e-054.397e-050.03.266e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign-0.674439Polymorphism
DBSNP ID rs115053637
1 combination linked to TG:p.Val1738Ile OLI470
1 disease linked to TG:p.Val1738Ile Congenital hypothyroidism
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