Details for TSHR:c.1582C>A, 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 c.1582C>A
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:c.1582C>A, p.Arg528Ser OLI1493
1 disease linked to TSHR:c.1582C>A, p.Arg528Ser Congenital hypothyroidism
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