Variant #0000006104 (NC_000017.10:g.44091637T>G, MAPT(NM_005910.5):c.944T>G)

Individual ID 00006117
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44091637T>G
Reference van Herpen E et al. (2003)
DB-ID MAPT_000068
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 ./. 10 c.944T>G r.(?) p.(Leu315Arg) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006139 ? ? MAPT 1 XY Liu