Variant #0000004501 (NC_000009.11:g.135778064delG, TSC1(NM_000368.4):c.2319delC)

Individual ID 00004501
Chromosome 9
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.135778064delG
Reference -
DB-ID TSC1_000091
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     
TSC1 NM_000368.4 ./. 18 c.2319delC r.(?) p.(Lys774Serfs*33) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004501 ? ? TSC1 1 Y Yang