Variant #0000002990 (NC_000016.10:g.2079032_2082504del, NM_000548.4:c.2967_3883del (TSC2))

Individual ID 00000743
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.2079032_2082504del
Published as g.del_ex26-ex31; c.2970-3886del917bp; p.S990R-FsX36
Reference Nur Farrah Dila Ismail et al.(2014)
DB-ID TSC2_000009 See all 2 reported entries
dbSNP ID -
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-06-29 15:55:18 +08:00 (CST)
Date last edited 2021-08-01 13:17:39 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

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RNA change     

Protein     

GVS function     

Clinical classification     
TSC2 NM_000548.4 +/. 26-31 c.2967_3883del - r.(?) p.(Ser989Argfs*27) - -



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000000837 DNA MLPA TSC2 1 Nur Aisyah Athirah