Details for TSHR:p.Arg109Gln

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
8155430681087962
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TSHR
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Arg109Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00140.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.989e-056.152e-050.00.00.00.03.518e-050.00.0

ESP
AAEA
0.00.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging3.775512Disease causing
DBSNP ID rs121908865
1 combination linked to TSHR:p.Arg109Gln OLI589
1 disease linked to TSHR:p.Arg109Gln Congenital hypothyroidism
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