Variant #0000007311 (NC_000016.10:g.2088268T>C, TSC2(NM_000548.3):c.5202T>C)

Individual ID 00001283
Chromosome 16
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.2088268T>C
Reference -
DB-ID TSC2_000001
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvina Sisterna-Hospital de Comunidad
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
TSC2 NM_000548.3 -/- 41 c.5202T>C p.(=) Hetero no r.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001522 DNA CNV;SEQ-NG IACA - 7-may-2019 Multigenetic panel - 26 Silvina Sisterna-Hospital de Comunidad