Variant #0000001175 (NC_000016.10:g.2058754A>G, NM_000548.4:c.856A>G (TSC2))

Individual ID 00000237
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.2058754A>G
Published as M286V
Reference Nur Farrah Dila Ismail et al. (2017), dbSNP, ClinVar
DB-ID TSC2_000013
dbSNP ID rs1800748
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 15:25:26 +08:00 (CST)
Date last edited 2021-08-24 15:13:40 +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 ./. 9 c.856A>G - r.(?) p.(Met286Val) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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