Variant #0000004697 (NC_000016.9:g.2138305_2138322delCATCAAGCGGCTCCGCCA, TSC2(NM_000548.3):c.5238_5255delCATCAAGCGGCTCCGCCA)

Individual ID 00004697
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.2138305_2138322delCATCAAGCGGCTCCGCCA
Reference -
DB-ID TSC2_000173 See all 3 reported entries
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 ./. 40 c.5238_5255delCATCAAGCGGCTCCGCCA r.(?) p.(His1746_Arg1751del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004697 ? ? TSC2 1 Y Yang