Variant #0000001334 (NC_000017.10:g.44096073G>A, MAPT(NM_005910.5):c.1087G>A)

Individual ID 00001334
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44096073G>A
Reference Anfossi M1, Bernardi L, Gallo M, Geracitano S, Colao R, Puccio G, Curcio SA, Frangipane F, Mirabelli M, Tomaino C, Smirne N, Maletta R, Bruni AC.(2011)
DB-ID MAPT_000024 See all 2 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
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_005910.5 ./. 11 c.1087G>A r.(?) p.(Val363Ile) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001334 ? ? MAPT 1 Y Yang