Details for TBK1:c.1341-2delA,

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
6488226564488485
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TBK1
REFERENCE ALLELE TA
ALTERNATE ALLELE T
TRANSCRIPT NM_013254.4
CDNA CHANGE c.1341-2delA
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNoneDisease causing
DBSNP ID NA
1 combination linked to TBK1:c.1341-2delA, OLI1622
1 disease linked to TBK1:c.1341-2delA, Amyotrophic lateral sclerosis
Found any issues with the data on this page? Report this entry.