Variant #0000004848 (NC_000021.8:g.27269932C>T, APP(NM_000484.3):c.2017G>A)

Individual ID 00004848
Chromosome 21
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.27269932C>T
Reference Kokawa A et al. (2015)
DB-ID APP_000033
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00046 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     
APP NM_000484.3 ./. 16 c.2017G>A r.(?) p.(Ala673Thr) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004848 ? ? APP 1 XY Liu