Details for TG:c.3040G>A, p.Asp1014Asn

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
133909932132897687
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TG
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.3040G>A
PROTEIN CHANGE p.Asp1014Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.772e-056.152e-052.891e-050.00.00048930.08.792e-060.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign-0.481826Polymorphism
DBSNP ID NA
1 combination linked to TG:c.3040G>A, p.Asp1014Asn OLI993
1 disease linked to TG:c.3040G>A, p.Asp1014Asn Congenital hypothyroidism

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