Details for TG:p.Ser1222Leu

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
133918963132906718
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TG
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_003235
CDNA CHANGE None
PROTEIN CHANGE p.Ser1222Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00640.00150.01730.01690.00.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0062380.00024620.032930.0010910.020340.07.917e-050.003750.0002613

ESP
AAEA
0.00045390.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.7192Polymorphism
DBSNP ID rs12549018
2 combinations linked to TG:p.Ser1222Leu OLI1084; OLI1092
1 disease linked to TG:p.Ser1222Leu Congenital hypothyroidism
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