Variant #0000001170 (NC_000016.10:g.2060794G>A, TSC2(NM_000548.4):c.1100G>A)

Individual ID 00000236
Chromosome 16
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.2060794G>A
Published as R367Q
Reference Nur Farrah Dila Ismail et al. (2017), dbSNP, ClinVar
DB-ID TSC2_000008
dbSNP ID rs1800725
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
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 -/. 10 c.1100G>A - r.(?) p.(Arg367Gln) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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