Variant #0000000603 (NC_000001.10:g.11080617A>T, TARDBP(NM_007375.3):c.675A>T)

Individual ID 00000603
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.11080617A>T
Reference Guerreiro RJ1, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ.(2008)
DB-ID TARDBP_000020
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 ./. 5 c.675A>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000603 ? ? TARDBP 1 Y Yang