Variant #0000694627 (NC_000016.9:g.2137565_2139331del, NM_000548.3:c.4990-299_*102{0} (TSC2))

Individual ID 00311802
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.2137565_2139331del
DNA change (hg38) g.2087564_2089330del
Published as NC_000016.9: g.2137565_2139331del
ISCN -
DB-ID TSC2_001694 See all 2 reported entries
Variant remarks 1767bp deletion; exons 39-42 deleted + 619bp downstream of TSC2, which includes part of PKD1 gene; deletion starts in TSC2 intron 38; variant at 32% MAF
Reference PubMed: Ogorek, 2020
ClinVar ID -
dbSNP ID -
Origin Unknown
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 2020-09-28 10:33:01 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     

Predict-BioInf     
TSC2 NM_000548.3 +/. 38i_42_ c.4990-299_*102{0} r.? p.? - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312974 DNA MLPA;SEQ;SEQ-NG-I Blood Targeted massive parallel sequencing; mean target coverage of 327× to 1614× (median 716×); MLPA TSC2 P337-B1 probe mix used; Genome sequencing also done; deletion confirmed by PCR across breakpoints, gel electrophoresis and Sanger sequencing TSC2 1 Rosemary Ekong


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