Details for TSHR:c.915T>A, p.Ser305Arg

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
8160931781142973
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TSHR
REFERENCE ALLELE T
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.915T>A
PROTEIN CHANGE p.Ser305Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.153985Disease causing
DBSNP ID NA
1 combination linked to TSHR:c.915T>A, p.Ser305Arg OLI1485
1 disease linked to TSHR:c.915T>A, p.Ser305Arg Congenital hypothyroidism
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