Details for TBK1:c.2040dup, p.Asn681Ter

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
6489150764497727
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE TBK1
REFERENCE ALLELE C
ALTERNATE ALLELE CT
TRANSCRIPT NM_013254
CDNA CHANGE c.2040dup
PROTEIN CHANGE p.Asn681Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.125119Disease causing
DBSNP ID NA
2 combinations linked to TBK1:c.2040dup, p.Asn681Ter OLI641; OLI644
2 diseases linked to TBK1:c.2040dup, p.Asn681Ter Frontotemporal dementia; Amyotrophic lateral sclerosis
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