Variant #0000006675 (NC_000009.12:g.132897330G>A, TSC1(NM_000368.4):c.2829C>T)

Individual ID 00001089
Chromosome 9
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.132897330G>A
Reference -
DB-ID TSC1_000004
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Pablo Kalfayan-Hospital Italiano
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     
TSC1 NM_000368.4 -/- 22 c.2829C>T p.(=) Hetero no r.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001301 DNA SEQ-NG CEMIC - 25-mar-2019 Multigenetic panel DICER1, FH, FLCN, MET, PTEN, TP53, TSC1, TSC2, VHL 10 Pablo Kalfayan-Hospital Italiano