Details for TPO:c.2513G>A, p.Cys838Tyr

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
15078461504074
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TPO
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.2513G>A
PROTEIN CHANGE p.Cys838Tyr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.222328Disease causing
DBSNP ID NA
1 combination linked to TPO:c.2513G>A, p.Cys838Tyr OLI1026
1 disease linked to TPO:c.2513G>A, p.Cys838Tyr Congenital hypothyroidism
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