Variant #0000004564 (NC_000016.9:g.2112988C>T, TSC2(NM_000548.3):c.1377C>T)

Individual ID 00004564
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.2112988C>T
Reference -
DB-ID TSC2_000040
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00066 View details
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 ./. 13 c.1377C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004564 ? ? TSC2 1 Y Yang