Details for TG:c.7753C>T, p.Arg2585Trp

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
134125846133113602
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TG
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_003235.5
CDNA CHANGE c.7753C>T
PROTEIN CHANGE p.Arg2585Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00140.00.00.00690.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00049910.00043228.699e-050.00.0051360.09.722e-050.00048990.0002293

ESP
AAEA
0.00068090.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.792371Polymorphism
DBSNP ID rs114211101
1 combination linked to TG:c.7753C>T, p.Arg2585Trp OLI1094
1 disease linked to TG:c.7753C>T, p.Arg2585Trp Congenital hypothyroidism
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