Variant #0000638520 (NC_000016.9:g.2129583C>T, NM_000548.3:c.3310C>T (TSC2))

Individual ID 00281245
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.2129583C>T
DNA change (hg38) g.2079582C>T
Published as p.Q1104*
ISCN -
DB-ID TSC2_002236 See all 5 reported entries
Variant remarks found with TSC2 splice variant c.976-15G>A; MAF =0.35; no normal sample available for comparison
Reference PubMed: Giannikou, 2016
ClinVar ID -
dbSNP ID -
Origin Somatic
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Rosemary Ekong
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Rosemary Ekong
Date created 2016-10-26 16:03:19 +02:00 (CEST)
Date last edited 2021-01-18 10:19:05 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     

Predict-BioInf     
TSC2 NM_000548.3 +/. 29 c.3310C>T r.(?) p.(Gln1104*) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000282391 DNA SEQ-NG Renal angiomyolipoma WES TSC2 2 Rosemary Ekong


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.