Variant #0000005941 (NC_000021.8:g.45194178G>A, CSTB(NM_000100.3):c.202C>T)

Individual ID 00005956
Chromosome 21
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.45194178G>A
Reference Danner N et al. (2011)
DB-ID CSTB_000002 See all 3 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
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     

Variant/VariO/DNA     

Variant/VariO/protein     
CSTB NM_000100.3 ./. 3 c.202C>T r.(?) p.(Arg68*) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005975 ? ? CSTB 1 XY Liu