Variant #0000006046 (NC_000017.10:g.44096038A>G, MAPT(NM_005910.5):c.1052A>G)

Individual ID 00006059
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44096038A>G
Reference Liang Y et al. (2014)
DB-ID MAPT_000057
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     

Variant/VariO/DNA     

Variant/VariO/protein     
MAPT NM_005910.5 ./. 11 c.1052A>G r.(?) p.(Gln351Arg) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006081 ? ? MAPT 1 XY Liu