Details for TSHR:p.Pro162Ala

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
8155889181092547
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TSHR
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Pro162Ala
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.0010.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00014320.08.678e-050.00.00010870.00.00026390.00016310.0

ESP
AAEA
0.00.0002326
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.267825Disease causing
DBSNP ID rs121908863
2 combinations linked to TSHR:p.Pro162Ala OLI586; OLI589
1 disease linked to TSHR:p.Pro162Ala Congenital hypothyroidism
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