Variant #0000005938 (NC_000016.9:g.2134988_2134995delTGGCGACG, TSC2(NM_000548.4):c.4530_4537delTGGCGACG)

Individual ID 00005953
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.2134988_2134995delTGGCGACG
Reference Tyburczy ME et al. (2015)
DB-ID TSC2_000247
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 ./. 35 c.4530_4537delTGGCGACG r.(?) p.(Phe1510Leufs*11) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005972 ? ? TSC2 1 XY Liu