Variant #0000006371 (NC_000001.10:g.11082410C>A, TARDBP(NM_007375.3):c.944C>A)

Individual ID 00006385
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.11082410C>A
Reference Fujita Y, Ikeda M, Yanagisawa T, Senoo Y, Okamoto K.(2011)
DB-ID TARDBP_000033 See all 2 reported entries
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     
TARDBP NM_007375.3 ?/. 6 c.944C>A r.(944c>a) p.(Ala315Glu) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006409 ? ? TARDBP 1 XY Liu