Variant #0000001188 (NC_000016.10:g.2056701dup, NM_000548.4:c.705dupC (TSC2))

Individual ID 00000237
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.2056701dup
Published as c.705insC;p.S235SFsX337
Reference Nur Farrah Dila Ismail et al. (2017)
DB-ID TSC2_000025
dbSNP ID rs879254653
Frequency 1/18
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-12-08 16:30:44 +08:00 (CST)
Date last edited 2021-09-09 15:57:49 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
TSC2 NM_000548.4 +/. 7 c.705dupC - r.(?) p.(Leu236Profs*102) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000252 DNA MLPA;PCRlr;SEQ TSC2 16 Nuur Athirah Binti Mohd Daud