Details for TPO:p.Ala426Gly

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
14813151477543
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TPO
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Ala426Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0120.04390.00290.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0016970.029010.0015560.00050620.00.00.00030780.0017860.0

ESP
AAEA
0.01450.0001397
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign1.534544Polymorphism
DBSNP ID rs61758082
1 combination linked to TPO:p.Ala426Gly OLI586
1 disease linked to TPO:p.Ala426Gly Congenital hypothyroidism
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