Variant #0000001169 (NC_000016.10:g.2087866C>T, TSC2(NM_000548.4):c.4993C>T)

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.2087866C>T
Published as Q1665X
Reference Nur Farrah Dila Ismail et al. (2017), dbSNP, ClinVar
DB-ID TSC2_000007
dbSNP ID rs45448101
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
TSC2 NM_000548.4 +/. 38 c.4993C>T - r.(?) p.(Gln1665*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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