Genomic variant #0000039294

Individual ID 00017526
Chromosome 16
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.2129371G>A
Reference -
DB-ID TSC2_000315 See all 2 reported entries
dbSNP ID rs747910305
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 0.00035
Allele Count 2
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.3226G>A r.(?) p.(Gly1076Arg)
TSC2 NM_001077183.1 ?/? - c.3094G>A r.(?) p.(Gly1032Arg)
TSC2 NM_001114382.1 ?/? - c.3226G>A r.(?) p.(Gly1076Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006954 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou