Variant #0000694656 (NC_000016.9:g.2137565_2139331del, NM_000548.3:c.4990-299_*102{0} (TSC2))

Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.2137565_2139331del
DNA change (hg38) g.2087564_2089330del
Published as -
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
Reference -
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
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
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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.? - -


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