Details for TPO:c.1199T>A, p.Val400Asp

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
14812371477465
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TPO
REFERENCE ALLELE T
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.1199T>A
PROTEIN CHANGE p.Val400Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.900689Polymorphism
DBSNP ID NA
1 combination linked to TPO:c.1199T>A, p.Val400Asp OLI1020
1 disease linked to TPO:c.1199T>A, p.Val400Asp Congenital hypothyroidism
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