Details for TPO:c.2735dupT, p.Gln913Profs

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
15463091542537
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TPO
REFERENCE ALLELE T
ALTERNATE ALLELE TT
TRANSCRIPT N.A.
CDNA CHANGE c.2735dupT
PROTEIN CHANGE p.Gln913Profs
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone-0.08482Polymorphism
DBSNP ID NA
1 combination linked to TPO:c.2735dupT, p.Gln913Profs OLI1174
1 disease linked to TPO:c.2735dupT, p.Gln913Profs Congenital hypothyroidism
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