Variant #0000000643 (NC_000016.9:g.31195720_31195721insGAGGTG, FUS(NM_004960.3):c.523+3_523+4insGAGGTG)

Individual ID 00000643
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.31195720_31195721insGAGGTG
Reference Sproviero W1, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L, MonsurrĂ² MR, Muglia M, Gambardella A, Quattrone A(2012)
DB-ID FUS_000024
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     
FUS NM_004960.3 ./. 5i c.523+3_523+4insGAGGTG r.spl? p.? VariO:0142 DNA insertion -



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000000643 ? ? FUS 1 Y Yang