Details for TSHR:p.Arg519His

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
8160995881143614
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TSHR
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Arg519His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.592e-050.02.892e-050.05.442e-054.656e-058.796e-060.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.238553Disease causing
DBSNP ID rs780018604
1 combination linked to TSHR:p.Arg519His OLI585
1 disease linked to TSHR:p.Arg519His Congenital hypothyroidism
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