Variant #0000001160 (NC_000009.12:g.132903785G>A, NM_000368.4:c.2074C>T (TSC1))

Individual ID 00000235
Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.132903785G>A
Published as R692X
Reference Nur Farrah Dila Ismail et al. (2017), dbSNP, ClinVar
DB-ID TSC1_000004
dbSNP ID rs118203631
Frequency 1/3
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 10:57:35 +08:00 (CST)
Date last edited 2021-08-23 16:18:01 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
TSC1 NM_000368.4 +/. 17 c.2074C>T - r.(?) p.(Arg692*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000250 DNA MLPA;PCRlr;SEQ TSC1 3 Nuur Athirah Binti Mohd Daud