Variant #0000637732 (NC_000016.9:g.2097269_2098012del, NM_000548.3:c.-827_-84del (TSC2))

Individual ID 00281055
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.2097269_2098012del
DNA change (hg38) g.2047268_2048011del
Published as c.-106-722_-85del; 744nt del includes part exon 1; sent seq in this nomenclature = c.-106-723_-86del
ISCN -
DB-ID TSC2_003410 See all 2 reported entries
Variant remarks 744nt del involving 23nt at 5' end of untranslated exon 1 and upstream sequence; HGVS compliant description = NG_005895.1:g.2963_3706del (considers most 3' nts as affected); variant at 50% freq; NGS read depth >500x
Reference PubMed: Tyburczy, 2015
ClinVar ID -
dbSNP ID -
Origin De novo
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 2016-03-04 16:09:15 +01:00 (CET)
Date last edited 2021-04-23 13:58:39 +02:00 (CEST)
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Variant on transcripts


Gene     

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Protein     

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Predict-BioInf     
TSC2 NM_000548.3 +/. _1_1 c.-827_-84del r.(?) p.? - -



Screenings


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Owner     
0000282201 DNA SEQ-NG-I Saliva - TSC2 1 Rosemary Ekong


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