Genomic variant #0000026927

Individual ID 00020719
Chromosome 16
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.2136293C>T
Reference -
DB-ID TSC2_000236
dbSNP ID rs45479192
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00017
Allele Count 1
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TSC2 NM_000548.3 +/+ - c.4762C>T r.(?) p.(Gln1588*)
TSC2 NM_001077183.1 +/+ - c.4561C>T r.(?) p.(Gln1521*)
TSC2 NM_001114382.1 +/+ - c.4693C>T r.(?) p.(Gln1565*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001376 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou