Variant #0000004737 (NC_000016.9:g.2106680C>A, TSC2(NM_000548.3):c.684C>A)

Individual ID 00004737
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.2106680C>A
Reference Li W1, Zhou LH, Gao BD, Li LY, Zhong CG, Gong F, Xiao HM, Song T, Lu GX.(2011)
DB-ID TSC2_000210
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 ./. 7 c.684C>A r.(?) p.(Tyr228*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004737 ? ? TSC2 1 Y Yang