Variant #0000006098 (NC_000017.10:g.44060859A>G, MAPT(NM_001123066.3):c.689A>G)

Individual ID 00006111
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44060859A>G
Reference Rademakers R et al. (2004)
DB-ID MAPT_000063
Frequency -
Average frequency (gnomAD v.2.1.1) 0.03979 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_001123066.3 ./. 6 c.689A>G r.(?) p.(Gln230Arg) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006133 ? ? MAPT 1 XY Liu