Variant #0000001178 (NC_000016.10:g.2065633C>T, TSC2(NM_000548.4):c.1714C>T)

Individual ID 00000237
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.2065633C>T
Published as Q572X
Reference Nur Farrah Dila Ismail et al. (2017), ClinVar
DB-ID TSC2_000016
dbSNP ID -
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
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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 +/. 15 c.1714C>T - r.(?) p.(Gln572*) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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