Details for TPO:c.2395G>A, p.Glu799Lys

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
186327186327
VARIANT EFFECT unknown
ANNOTATION FLAG manually_attributed
GENE TPO
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001206744.2
CDNA CHANGE c.2395G>A
PROTEIN CHANGE p.Glu799Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone0.204723None
DBSNP ID rs121908085
1 combination linked to TPO:c.2395G>A, p.Glu799Lys OLI594
1 disease linked to TPO:c.2395G>A, p.Glu799Lys Congenital hypothyroidism
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