Details for TBK1:c.228+1G>A,

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
6485411064460330
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TBK1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_013254.4
CDNA CHANGE c.228+1G>A
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.644203Disease causing
DBSNP ID NA
1 combination linked to TBK1:c.228+1G>A, OLI1627
1 disease linked to TBK1:c.228+1G>A, Amyotrophic lateral sclerosis
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