Details for TYK2:c.2441C>T,

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
1046846510357789
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TYK2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_003331.5
CDNA CHANGE c.2441C>T
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00013730.05.812e-050.00.04.741e-050.00027830.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.042912Polymorphism
DBSNP ID NA
1 combination linked to TYK2:c.2441C>T, OLI1329
1 disease linked to TYK2:c.2441C>T, Primary immunodeficiency

Found any issues with the data on this page? Report this entry.