Details for TSHR:p.Arg528Ser

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
8160998481143640
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TSHR
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Arg528Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.324725Disease causing
DBSNP ID NA
1 combination linked to TSHR:p.Arg528Ser OLI1073
1 disease linked to TSHR:p.Arg528Ser Congenital hypothyroidism
Found any issues with the data on this page? Report this entry.