Variant #0000006576 (NC_000012.11:g.64889341G>C, TBK1(NM_013254.3):c.1600G>C)

Individual ID 00006582
Chromosome 12
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.64889341G>C
Reference Xiaolu Liu, et al. (2021)
DB-ID TBK1_000051
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TBK1 NM_013254.3 ?/. 14 c.1600G>C r.(1600g>c) p.(Asp534His)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006607 ? ? SQSTM1, TBK1 2 XY Liu