Variant #0000001164 (NC_000016.10:g.2057156_2057157del, NM_000548.4:c.826_827delAT (TSC2))

Individual ID 00000236
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.2057156_2057157del
Published as M276VFsX337
Reference Nur Farrah Dila Ismail et al. (2017), dbSNP, ClinVar
DB-ID TSC2_000002
dbSNP ID rs137853977
Frequency 1/10
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 11:20:55 +08:00 (CST)
Date last edited 2021-08-23 16:20:24 +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 +/. 8 c.826_827delAT - r.(?) p.(Met276Valfs*61) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000251 DNA MLPA;PCRlr;SEQ TSC2 10 Nuur Athirah Binti Mohd Daud