Variant #0000001167 (NC_000016.10:g.2081739C>A, NM_000548.4:c.3755C>A (TSC2))

Individual ID 00000236
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.2081739C>A
Published as S1252X
Reference Nur Farrah Dila Ismail et al. (2017), dbSNP, ClinVar
DB-ID TSC2_000005 See all 2 reported entries
dbSNP ID rs1027773484
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
Date created 2020-12-08 11:35:49 +08:00 (CST)
Date last edited 2021-08-23 16:23:36 +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     
TSC2 NM_000548.4 ?/. 30 c.3755C>A - r.(?) p.(Ser1252*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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