Details for TPO:c.2268dupT, p.Glu757Ter

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
15004181496646
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TPO
REFERENCE ALLELE G
ALTERNATE ALLELE GT
TRANSCRIPT N.A.
CDNA CHANGE c.2268dupT
PROTEIN CHANGE p.Glu757Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.18951Disease causing
DBSNP ID NA
1 combination linked to TPO:c.2268dupT, p.Glu757Ter OLI1805
1 disease linked to TPO:c.2268dupT, p.Glu757Ter Congenital hypothyroidism
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