Details for TSHR:c.1574T>C, p.Phe525Ser

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
8160997681143632
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TSHR
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE c.1574T>C
PROTEIN CHANGE p.Phe525Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.0010.00.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00013930.00.00.00.0017950.00.00.06.533e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging3.399126Disease causing
DBSNP ID NA
1 combination linked to TSHR:c.1574T>C, p.Phe525Ser OLI1495
1 disease linked to TSHR:c.1574T>C, p.Phe525Ser Congenital hypothyroidism
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