Variant #0000684200 (NC_000016.9:g.(2114429_2115519)_(2124391_2125799)[3], NM_000548.3:c.(1599+1_1600-1)_(2545+1_2546-1)[3] (TSC2))

Individual ID 00308259
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(2114429_2115519)_(2124391_2125799)[3]
DNA change (hg38) g.(2064428_2065518)_(2074390_2075798)[3]
Published as triplication of exons 15-21 inclusive
ISCN -
DB-ID TSC2_001632 See all 2 reported entries
Variant remarks triplication of exons 16-22 inclusive resulting in 4 alleles (heterozygous triplication); signal ratios for probes in exons 16-22 reported as 2x above control levels indicating 4 alleles; reported as triplication of exons 15-21 (based on 41 exons)
Reference unpublished
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation ?
Frequency 1/4 individuals tested has the variant
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Rosemary Ekong
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Rosemary Ekong
Date created 2020-08-26 10:25:17 +02:00 (CEST)
Date last edited N/A




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     

Predict-BioInf     
TSC2 NM_000548.3 +/. 15i_22i c.(1599+1_1600-1)_(2545+1_2546-1)[3] r.? p.? - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000309403 DNA MCA;SEQ Blood - TSC1, TSC2 2 Rosemary Ekong


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