Variant #0000006263 (NC_000001.10:g.11082475A>G, TARDBP(NM_007375.3):c.1009A>G)

Individual ID 00006277
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.11082475A>G
Reference Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
DB-ID TARDBP_000003 See all 9 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
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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.1009A>G r.(1009a>g) p.(Met337Val) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006300 ? ? TARDBP 1 XY Liu