Variant #0000000720 (NC_000001.10:g.11082535G>C, TARDBP(NM_007375.3):c.1069G>C)

Individual ID 00000720
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.11082535G>C
Reference Chiang HH, Andersen PM, Tysnes OB, Gredal O, Christensen PB, Graff C. (2012)
DB-ID TARDBP_000030
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
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.1069G>C r.(?) p.(Gly357Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000720 ? ? TARDBP 2 Y Yang