Details for PAX8:p.Lys135Arg

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
114000341113242764
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PAX8
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Lys135Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.001316.457e-052.896e-050.00.00.0072810.0013950.0016490.0

ESP
AAEA
0.00.0009454
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedUnknown3.380881Polymorphism
DBSNP ID rs190431939
1 combination linked to PAX8:p.Lys135Arg OLI591
1 disease linked to PAX8:p.Lys135Arg Congenital hypothyroidism
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