Genomic variant #0000020667

Individual ID 00020089
Chromosome 16
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.2133726C>T
Reference -
DB-ID TSC2_000139 See all 3 reported entries
dbSNP ID rs45517320
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 0.00052
Allele Count 3
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.3914C>T r.(?) p.(Pro1305Leu)
TSC2 NM_001077183.1 -/- - c.3713C>T r.(?) p.(Pro1238Leu)
TSC2 NM_001114382.1 -/- - c.3845C>T r.(?) p.(Pro1282Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000750 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou