Details for TG:c.3416C>T, p.Ser1139Leu

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
133912567132900322
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TG
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_003235.4
CDNA CHANGE c.3416C>T
PROTEIN CHANGE p.Ser1139Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00017770.00.00.00.00082024.775e-050.00025010.00.0

ESP
AAEA
0.00.0002326
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.629473Polymorphism
DBSNP ID rs201480815
1 combination linked to TG:c.3416C>T, p.Ser1139Leu OLI565
1 disease linked to TG:c.3416C>T, p.Ser1139Leu Congenital hypothyroidism
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