Variant #0000005927 (NC_000016.9:g.2116354_2129629del, TSC2(NM_000548.4):c.1717-4103_3356del)

Individual ID 00005942
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.2116354_2129629del
Reference Tyburczy ME et al. (2015)
DB-ID TSC2_000239
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
TSC2 NM_000548.4 ./. 15i_28 c.1717-4103_3356del r.? p.? - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005961 ? ? TSC2 1 XY Liu