Variant #0000001152 (NC_000009.11:g.132576387C>T, TOR1A(NM_000113.2):c.863G>A)

Individual ID 00001152
Chromosome 9
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.132576387C>T
Reference Hettich J1, Ryan SD, de Souza ON, Saraiva Macedo Timmers LF, Tsai S, Atai NA, da Hora CC, Zhang X, Kothary R, Snapp E, Ericsson M, Grundmann K, Breakefield XO, Nery FC.(2014)
DB-ID TOR1A_000006
Frequency -
Average frequency (gnomAD v.2.1.1) 9.0E-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     
TOR1A NM_000113.2 ./. 5 c.863G>A r.(?) p.(Arg288Gln) 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     
0000001152 ? ? TOR1A 1 Y Yang