Variant #0000782079 (NC_000016.9:g.(?_2097990)_(2100488_2103342)del, TSC2(NM_000548.3):c.(?_-106)_(225+1_226-1)del)

Chromosome 16
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_2097990)_(2100488_2103342)del
DNA change (hg38) g.(?_2047989)_(2050487_2053341)del
Published as -
ISCN -
DB-ID TSC2_003018 See all 2 reported entries
Variant remarks exons 1-3 deleted, including region upstream of TSC2
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 2021-05-04 16:22:13 +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 +?/+? _1_3i c.(?_-106)_(225+1_226-1)del r.0? p.? - -