Variant #0000004603 (NC_000016.9:g.2122986_2122989delTAGG, TSC2(NM_000548.3):c.2355+2_2355+5delTAGG)

Individual ID 00004603
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.2122986_2122989delTAGG
Reference -
DB-ID TSC2_000079
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     
TSC2 NM_000548.3 ./. 20i c.2355+2_2355+5delTAGG r.spl? p.? VariO:0141 DNA deletion -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004603 ? ? TSC2 1 Y Yang