Variant #0000000637 (NC_000016.9:g.31202725A>T, FUS(NM_004960.3):c.1547A>T)

Individual ID 00000637
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.31202725A>T
Reference Robertson J1, Bilbao J, Zinman L, Hazrati LN, Tokuhiro S, Sato C, Moreno D, Strome R, Mackenzie IR, Rogaeva E.(2011)
DB-ID FUS_000016
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 ./. 15 c.1547A>T r.(?) p.(Glu516Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000637 ? ? FUS 1 Y Yang