Variant #0000001158 (NC_000009.12:g.132902724G>A, NM_000368.4:c.2272C>T (TSC1))

Individual ID 00000234
Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.132902724G>A
Published as Q758X
Reference Nur Farrah Dila Ismail et al. (2017), dbSNP, ClinVar
DB-ID TSC1_000002 See all 2 reported entries
dbSNP ID rs397514783
Frequency 2/4
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 10:47:31 +08:00 (CST)
Date last edited 2021-08-23 16:11:00 +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 +/. 18 c.2272C>T - r.(?) p.(Gln758*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000249 DNA MLPA;PCRlr;SEQ TSC1 3 Nuur Athirah Binti Mohd Daud