Variant #0000006019 (NC_000017.10:g.44068850G>A, MAPT(NM_005910.5):c.454G>A)

Individual ID 00006032
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44068850G>A
Reference Coppola G et al. (2012)
DB-ID MAPT_000053 See all 6 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00145 View details
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
MAPT NM_005910.5 ./. 7 c.454G>A r.(?) p.(Ala152Thr) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006053 ? ? MAPT 1 XY Liu