Variant #0000638076 (NC_000016.9:g.2095496_2102578delinsN[273], NC_000016.9(NM_000548.3):c.-2600_226-765delinsN[273] (TSC2))

Individual ID 00281399
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.2095496_2102578delinsN[273]
DNA change (hg38) g.2045495_2052577delinsN[273]
Published as c.-2600_226-765del6561ins273
ISCN -
DB-ID TSC2_003588 See all 2 reported entries
Variant remarks del 7083bp and ins 273bp (NG_005895.1:g.1190_8272delins273); starts upstream of untranslated ex 1, includes promoter region (Kobayashi et al, 1997; Mamm Genome. 1997, 8:554-8), ending in intron 3; inserted seq available on request
Reference unpublished
ClinVar ID -
dbSNP ID -
Origin Germline
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 2018-02-07 20:26:28 +01:00 (CET)
Date last edited 2021-12-15 22:00:19 +01:00 (CET)
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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.-2600_226-765delinsN[273] r.(?) p.? - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000282545 DNA SEQ Blood - TSC2 1 Rosemary Ekong


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