Variant #0000004743 (NC_000016.9:g.2122985G>T, TSC2(NM_000548.3):c.2355+1G>T)

Individual ID 00004743
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.2122985G>T
Reference Tyburczy ME1, Jozwiak S2, Malinowska IA1, Chekaluk Y1, Pugh TJ3, Wu CL4, Nussbaum RL5, Seepo S6, Dzik T2, Kotulska K2, Kwiatkowski DJ7.(2015)
DB-ID TSC2_000216
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
TSC2 NM_000548.3 ./. 20i c.2355+1G>T r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004743 ? ? TSC2 1 Y Yang