Variant #0000004488 (NC_000009.11:g.135779137_135779143dup, TSC1(NM_000368.4):c.2103_2109dup)

Individual ID 00004488
Chromosome 9
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.135779137_135779143dup
Reference -
DB-ID TSC1_000078
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     
TSC1 NM_000368.4 ./. 17 c.2103_2109dup r.(?) p.(Tyr704Valfs*4) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004488 ? ? TSC1 1 Y Yang