Variant #0000004591 (NC_000016.9:g.2121862_2121880delCAGGCCCCGCCGTGCGGCT, TSC2(NM_000548.3):c.2024_2042delCAGGCCCCGCCGTGCGGCT)

Individual ID 00004591
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.2121862_2121880delCAGGCCCCGCCGTGCGGCT
Reference -
DB-ID TSC2_000067
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
TSC2 NM_000548.3 ./. 18 c.2024_2042delCAGGCCCCGCCGTGCGGCT r.(?) p.(Ala675Glyfs*17) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004591 ? ? TSC2 1 Y Yang