Details for TG:p.Asn212Ser

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
133885463132873218
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TG
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Asn212Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00015120.00.00.00.0020680.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.710226Polymorphism
DBSNP ID rs187737243
1 combination linked to TG:p.Asn212Ser OLI466
1 disease linked to TG:p.Asn212Ser Congenital hypothyroidism
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