Details for TPO:c.670_672del, p.Asp224del

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
14599041456132
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TPO
REFERENCE ALLELE TGAC
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.670_672del
PROTEIN CHANGE p.Asp224del
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone1.27792Polymorphism
DBSNP ID NA
1 combination linked to TPO:c.670_672del, p.Asp224del OLI1805
1 disease linked to TPO:c.670_672del, p.Asp224del Congenital hypothyroidism
Found any issues with the data on this page? Report this entry.