Variant #0000001342 (NC_000017.10:g.44087772A>T, MAPT(NM_001123066.3):c.1920+4A>T)

Individual ID 00001342
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44087772A>T
Reference Anfossi M1, Vuono R, Maletta R, Virdee K, Mirabelli M, Colao R, Puccio G, Bernardi L, Frangipane F, Gallo M, Geracitano S, Tomaino C, Curcio SA, Zannino G, Lamenza F, Duyckaerts C, Spillantini MG, Losso MA, Bruni AC.(2011)
DB-ID MAPT_000036
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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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 ./. IVS10 c.1920+4A>T r.spl? p.? - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001342 ? ? MAPT 1 Y Yang