Variant #0000006381 (NC_000001.10:g.11082610G>A, TARDBP(NM_007375.3):c.1144G>A)

Individual ID 00006395
Chromosome 1
Allele Maternal (confirmed)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.11082610G>A
Reference Adriano ChiĆ², Gabriella Restagno, Maura Brunetti, et al. (2012)
DB-ID TARDBP_000013 See all 16 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
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.1144G>A r.(1144g>a) p.(Ala382Thr) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006419 ? ? C9orf72, TARDBP 2 XY Liu