Details for TSHR:c.679G>A, p.Gly227Arg

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
8157478381108439
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TSHR
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.679G>A
PROTEIN CHANGE p.Gly227Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.395372Polymorphism
DBSNP ID NA
1 combination linked to TSHR:c.679G>A, p.Gly227Arg OLI986
1 disease linked to TSHR:c.679G>A, p.Gly227Arg Congenital hypothyroidism
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