Variant #0000000795 (NC_000001.10:g.11082610G>A, TARDBP(NM_007375.3):c.1144G>A)

Individual ID 00000795
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.11082610G>A
Reference Borghero G1, Pugliatti M2, Marrosu F1, Marrosu MG3, Murru MR3, Floris G1, Cannas A1, Parish LD2, Occhineri P2, Cau TB4, Loi D4, Ticca A5, Traccis S6, (2014)
DB-ID TARDBP_000013 See all 16 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 4.0E-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     
TARDBP NM_007375.3 ./. 6 c.1144G>A r.(?) p.(Ala382Thr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000795 ? ? TARDBP 1 Y Yang