Details for TG:p.Arg896Gln

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
133900739132888494
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TG
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Arg896Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00080.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
5.704e-050.00012350.00.00.00065350.00.00.00.0

ESP
AAEA
0.00045390.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.747572Disease causing
DBSNP ID rs374707675
1 combination linked to TG:p.Arg896Gln OLI474
1 disease linked to TG:p.Arg896Gln Congenital hypothyroidism
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