Details for TPO:p.Arg846Trp

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
15206721516900
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TPO
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Arg846Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00140.00380.00.0020.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00034660.0031452.891e-050.00.0016860.01.764e-050.00016333.266e-05

ESP
AAEA
0.0034040.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging2.34933Polymorphism
DBSNP ID rs28913014
2 combinations linked to TPO:p.Arg846Trp OLI469; OLI474
1 disease linked to TPO:p.Arg846Trp Congenital hypothyroidism
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